Ensembl GRCh37 Rest API - GET /phenotype/gene/:species/:gene

Return phenotype annotations for a given gene.

Parameters

Required

Name	Type	Description	Default	Example Values
gene	`String`	Query gene name or Ensembl stable ID.	`-`	`ENSG00000157764`
species	`String`	Species name/alias	`-`	`homo_sapiens` `human`

Optional

Name	Type	Description	Default	Example Values
callback	`String`	Name of the callback subroutine to be returned by the requested JSONP response. Required ONLY when using JSONP as the serialisation method. Please see the user guide.	`-`	`randomlygeneratedname`
include_associated	`Boolean(0,1)`	Include phenotypes associated with variants reporting this gene.	`0`	`-`
include_overlap	`Boolean(0,1)`	Include phenotypes of features overlapping the gene.	`0`	`-`
include_pubmed_id	`Boolean(0,1)`	Include the pubmed_ids	`0`	`-`
include_review_status	`Boolean(0,1)`	Include the review_status information	`0`	`-`
include_submitter	`Boolean(0,1)`	Include the submitter names	`0`	`-`
non_specified	`Boolean(0,1)`	Return non_specified phenotypes (records that did not provide a specific phenotype e.g. 'not provided')	`1`	`-`
trait	`Boolean(0,1)`	Return phenotype/disease associations	`1`	`-`
tumour	`Boolean(0,1)`	Return mutations observed in tumour samples and the tumour type	`1`	`-`

Example Requests

/phenotype/gene/homo_sapiens/SAP30BP?content-type=application/json;include_associated=1

use strict;
use warnings;

use HTTP::Tiny;

my $http = HTTP::Tiny->new();

my $server = 'https://grch37.rest.ensembl.org';
my $ext = '/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1';
my $response = $http->get($server.$ext, {
  headers => { 'Content-type' => 'application/json' }
});

die "Failed!\n" unless $response->{success};


use JSON;
use Data::Dumper;
if(length $response->{content}) {
  my $hash = decode_json($response->{content});
  local $Data::Dumper::Terse = 1;
  local $Data::Dumper::Indent = 1;
  print Dumper $hash;
  print "\n";
}

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print repr(decoded)

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print(repr(decoded))

require 'net/http'
require 'uri'

server='https://grch37.rest.ensembl.org'
path = '/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1'

url = URI.parse(server)
http = Net::HTTP.new(url.host, url.port)

request = Net::HTTP::Get.new(path, {'Content-Type' => 'application/json'})

response = http.request(request)

if response.code != "200"
  puts "Invalid response: #{response.code}"
  puts response.body
  exit
end


require 'rubygems'
require 'json'
require 'yaml'

result = JSON.parse(response.body)
puts YAML::dump(result)

import java.net.URL;
import java.net.URLConnection;
import java.net.HttpURLConnection;
import java.io.BufferedReader;
import java.io.InputStream;
import java.io.InputStreamReader;
import java.io.IOException;
import java.io.Reader;


public class EnsemblRest {

  public static void main(String[] args) throws Exception {
    String server = "https://grch37.rest.ensembl.org";
    String ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1";
    URL url = new URL(server + ext);

    URLConnection connection = url.openConnection();
    HttpURLConnection httpConnection = (HttpURLConnection)connection;
    
    httpConnection.setRequestProperty("Content-Type", "application/json");
    

    InputStream response = connection.getInputStream();
    int responseCode = httpConnection.getResponseCode();

    if(responseCode != 200) {
      throw new RuntimeException("Response code was not 200. Detected response was "+responseCode);
    }

    String output;
    Reader reader = null;
    try {
      reader = new BufferedReader(new InputStreamReader(response, "UTF-8"));
      StringBuilder builder = new StringBuilder();
      char[] buffer = new char[8192];
      int read;
      while ((read = reader.read(buffer, 0, buffer.length)) > 0) {
        builder.append(buffer, 0, read);
      }
      output = builder.toString();
    } 
    finally {
        if (reader != null) try {
          reader.close(); 
        } catch (IOException logOrIgnore) {
          logOrIgnore.printStackTrace();
        }
    }

    System.out.println(output);
  }
}

library(httr)
library(jsonlite)
library(xml2)

server <- "https://grch37.rest.ensembl.org"
ext <- "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1"

r <- GET(paste(server, ext, sep = ""), content_type("application/json"))

stop_for_status(r)

# use this if you get a simple nested list back, otherwise inspect its structure
# head(data.frame(t(sapply(content(r),c))))
head(fromJSON(toJSON(content(r))))


curl 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1' -H 'Content-type:application/json'

wget -q --header='Content-type:application/json' 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1'  -O -

/phenotype/gene/homo_sapiens/SAP30BP?include_overlap=1;include_associated=1;content-type=application/json

use strict;
use warnings;

use HTTP::Tiny;

my $http = HTTP::Tiny->new();

my $server = 'https://grch37.rest.ensembl.org';
my $ext = '/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1';
my $response = $http->get($server.$ext, {
  headers => { 'Content-type' => 'application/json' }
});

die "Failed!\n" unless $response->{success};


use JSON;
use Data::Dumper;
if(length $response->{content}) {
  my $hash = decode_json($response->{content});
  local $Data::Dumper::Terse = 1;
  local $Data::Dumper::Indent = 1;
  print Dumper $hash;
  print "\n";
}

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print repr(decoded)

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print(repr(decoded))

require 'net/http'
require 'uri'

server='https://grch37.rest.ensembl.org'
path = '/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1'

url = URI.parse(server)
http = Net::HTTP.new(url.host, url.port)

request = Net::HTTP::Get.new(path, {'Content-Type' => 'application/json'})

response = http.request(request)

if response.code != "200"
  puts "Invalid response: #{response.code}"
  puts response.body
  exit
end


require 'rubygems'
require 'json'
require 'yaml'

result = JSON.parse(response.body)
puts YAML::dump(result)

import java.net.URL;
import java.net.URLConnection;
import java.net.HttpURLConnection;
import java.io.BufferedReader;
import java.io.InputStream;
import java.io.InputStreamReader;
import java.io.IOException;
import java.io.Reader;


public class EnsemblRest {

  public static void main(String[] args) throws Exception {
    String server = "https://grch37.rest.ensembl.org";
    String ext = "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1";
    URL url = new URL(server + ext);

    URLConnection connection = url.openConnection();
    HttpURLConnection httpConnection = (HttpURLConnection)connection;
    
    httpConnection.setRequestProperty("Content-Type", "application/json");
    

    InputStream response = connection.getInputStream();
    int responseCode = httpConnection.getResponseCode();

    if(responseCode != 200) {
      throw new RuntimeException("Response code was not 200. Detected response was "+responseCode);
    }

    String output;
    Reader reader = null;
    try {
      reader = new BufferedReader(new InputStreamReader(response, "UTF-8"));
      StringBuilder builder = new StringBuilder();
      char[] buffer = new char[8192];
      int read;
      while ((read = reader.read(buffer, 0, buffer.length)) > 0) {
        builder.append(buffer, 0, read);
      }
      output = builder.toString();
    } 
    finally {
        if (reader != null) try {
          reader.close(); 
        } catch (IOException logOrIgnore) {
          logOrIgnore.printStackTrace();
        }
    }

    System.out.println(output);
  }
}

library(httr)
library(jsonlite)
library(xml2)

server <- "https://grch37.rest.ensembl.org"
ext <- "/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1"

r <- GET(paste(server, ext, sep = ""), content_type("application/json"))

stop_for_status(r)

# use this if you get a simple nested list back, otherwise inspect its structure
# head(data.frame(t(sapply(content(r),c))))
head(fromJSON(toJSON(content(r))))


curl 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1' -H 'Content-type:application/json'

wget -q --header='Content-type:application/json' 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/SAP30BP?include_associated=1;include_overlap=1'  -O -

/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1;content-type=application/json

use strict;
use warnings;

use HTTP::Tiny;

my $http = HTTP::Tiny->new();

my $server = 'https://grch37.rest.ensembl.org';
my $ext = '/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1';
my $response = $http->get($server.$ext, {
  headers => { 'Content-type' => 'application/json' }
});

die "Failed!\n" unless $response->{success};


use JSON;
use Data::Dumper;
if(length $response->{content}) {
  my $hash = decode_json($response->{content});
  local $Data::Dumper::Terse = 1;
  local $Data::Dumper::Indent = 1;
  print Dumper $hash;
  print "\n";
}

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print repr(decoded)

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print(repr(decoded))

require 'net/http'
require 'uri'

server='https://grch37.rest.ensembl.org'
path = '/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1'

url = URI.parse(server)
http = Net::HTTP.new(url.host, url.port)

request = Net::HTTP::Get.new(path, {'Content-Type' => 'application/json'})

response = http.request(request)

if response.code != "200"
  puts "Invalid response: #{response.code}"
  puts response.body
  exit
end


require 'rubygems'
require 'json'
require 'yaml'

result = JSON.parse(response.body)
puts YAML::dump(result)

import java.net.URL;
import java.net.URLConnection;
import java.net.HttpURLConnection;
import java.io.BufferedReader;
import java.io.InputStream;
import java.io.InputStreamReader;
import java.io.IOException;
import java.io.Reader;


public class EnsemblRest {

  public static void main(String[] args) throws Exception {
    String server = "https://grch37.rest.ensembl.org";
    String ext = "/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1";
    URL url = new URL(server + ext);

    URLConnection connection = url.openConnection();
    HttpURLConnection httpConnection = (HttpURLConnection)connection;
    
    httpConnection.setRequestProperty("Content-Type", "application/json");
    

    InputStream response = connection.getInputStream();
    int responseCode = httpConnection.getResponseCode();

    if(responseCode != 200) {
      throw new RuntimeException("Response code was not 200. Detected response was "+responseCode);
    }

    String output;
    Reader reader = null;
    try {
      reader = new BufferedReader(new InputStreamReader(response, "UTF-8"));
      StringBuilder builder = new StringBuilder();
      char[] buffer = new char[8192];
      int read;
      while ((read = reader.read(buffer, 0, buffer.length)) > 0) {
        builder.append(buffer, 0, read);
      }
      output = builder.toString();
    } 
    finally {
        if (reader != null) try {
          reader.close(); 
        } catch (IOException logOrIgnore) {
          logOrIgnore.printStackTrace();
        }
    }

    System.out.println(output);
  }
}

library(httr)
library(jsonlite)
library(xml2)

server <- "https://grch37.rest.ensembl.org"
ext <- "/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1"

r <- GET(paste(server, ext, sep = ""), content_type("application/json"))

stop_for_status(r)

# use this if you get a simple nested list back, otherwise inspect its structure
# head(data.frame(t(sapply(content(r),c))))
head(fromJSON(toJSON(content(r))))


curl 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1' -H 'Content-type:application/json'

wget -q --header='Content-type:application/json' 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/ENSG00000161526?include_overlap=1'  -O -

/phenotype/gene/homo_sapiens/GTF2IRD1?content-type=application/json

use strict;
use warnings;

use HTTP::Tiny;

my $http = HTTP::Tiny->new();

my $server = 'https://grch37.rest.ensembl.org';
my $ext = '/phenotype/gene/homo_sapiens/GTF2IRD1?';
my $response = $http->get($server.$ext, {
  headers => { 'Content-type' => 'application/json' }
});

die "Failed!\n" unless $response->{success};


use JSON;
use Data::Dumper;
if(length $response->{content}) {
  my $hash = decode_json($response->{content});
  local $Data::Dumper::Terse = 1;
  local $Data::Dumper::Indent = 1;
  print Dumper $hash;
  print "\n";
}

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/GTF2IRD1?"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print repr(decoded)

import requests, sys

server = "https://grch37.rest.ensembl.org"
ext = "/phenotype/gene/homo_sapiens/GTF2IRD1?"

r = requests.get(server+ext, headers={ "Content-Type" : "application/json"})

if not r.ok:
  r.raise_for_status()
  sys.exit()

decoded = r.json()
print(repr(decoded))

require 'net/http'
require 'uri'

server='https://grch37.rest.ensembl.org'
path = '/phenotype/gene/homo_sapiens/GTF2IRD1?'

url = URI.parse(server)
http = Net::HTTP.new(url.host, url.port)

request = Net::HTTP::Get.new(path, {'Content-Type' => 'application/json'})

response = http.request(request)

if response.code != "200"
  puts "Invalid response: #{response.code}"
  puts response.body
  exit
end


require 'rubygems'
require 'json'
require 'yaml'

result = JSON.parse(response.body)
puts YAML::dump(result)

import java.net.URL;
import java.net.URLConnection;
import java.net.HttpURLConnection;
import java.io.BufferedReader;
import java.io.InputStream;
import java.io.InputStreamReader;
import java.io.IOException;
import java.io.Reader;


public class EnsemblRest {

  public static void main(String[] args) throws Exception {
    String server = "https://grch37.rest.ensembl.org";
    String ext = "/phenotype/gene/homo_sapiens/GTF2IRD1?";
    URL url = new URL(server + ext);

    URLConnection connection = url.openConnection();
    HttpURLConnection httpConnection = (HttpURLConnection)connection;
    
    httpConnection.setRequestProperty("Content-Type", "application/json");
    

    InputStream response = connection.getInputStream();
    int responseCode = httpConnection.getResponseCode();

    if(responseCode != 200) {
      throw new RuntimeException("Response code was not 200. Detected response was "+responseCode);
    }

    String output;
    Reader reader = null;
    try {
      reader = new BufferedReader(new InputStreamReader(response, "UTF-8"));
      StringBuilder builder = new StringBuilder();
      char[] buffer = new char[8192];
      int read;
      while ((read = reader.read(buffer, 0, buffer.length)) > 0) {
        builder.append(buffer, 0, read);
      }
      output = builder.toString();
    } 
    finally {
        if (reader != null) try {
          reader.close(); 
        } catch (IOException logOrIgnore) {
          logOrIgnore.printStackTrace();
        }
    }

    System.out.println(output);
  }
}

library(httr)
library(jsonlite)
library(xml2)

server <- "https://grch37.rest.ensembl.org"
ext <- "/phenotype/gene/homo_sapiens/GTF2IRD1?"

r <- GET(paste(server, ext, sep = ""), content_type("application/json"))

stop_for_status(r)

# use this if you get a simple nested list back, otherwise inspect its structure
# head(data.frame(t(sapply(content(r),c))))
head(fromJSON(toJSON(content(r))))


curl 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/GTF2IRD1?' -H 'Content-type:application/json'

wget -q --header='Content-type:application/json' 'https://grch37.rest.ensembl.org/phenotype/gene/homo_sapiens/GTF2IRD1?'  -O -

Resource Information

Methods	GET
Response formats	json xml jsonp