API for HUGO Gene Nomenclature Committee (HGNC) Database
The HUGO Gene Nomenclature Committee (HGNC) is the worldwide authority that assigns standardized nomenclature to human genes. The work of the HGNC is supported by National Human Genome Research Institute (NHGRI) and Wellcome Trust grants.
Source file: ftp://ftp.ebi.ac.uk/pub/databases/genenames/new/tsv/hgnc_complete_set.txt
This service is provided "as is" and free of charge. Please see the Frequently Asked Questions page for more details on terms of service, etc.API Demo
The following demo shows how this API might be used with an autocompleter we've developed.
For further experimentation with the autocompleter and this API, try the autocompleter demo page.
API Documentation
API Base URL:
- https://clinicaltables.nlm.nih.gov/api/genes/v4/search (+ query string parameters)
This data set may also be accessed through the FHIR ValueSet $expand operation.
In addition to the base URL, you will need to specify other parameters. See the query string parameters section below for details.
Query String Parameters and Default Values
At a minimum, when using the above base URL, you will need to specify the "terms" parameter containing a word or partial word to match.
| Parameter Name | Default Value | Description |
|---|---|---|
| terms | (Required.) The search string (e.g., just a part of a word) for which to find matches in the list. More than one partial word can be present in "terms", in which case there is an implicit AND between them. | |
| maxList | 7 | Optional, with a default of 7. Specifies the number of results requested, up to the upper limit of 500. If present but the value is empty, 500 will be used. Note that this parameter does not support pagination, see "count" and "offset" below for details on pagination support. |
| count | 7 | The number of results to retrieve (page size). The maximum count allowed is 500, see "offset" below on pagination support. |
| offset | 0 | The starting result number (0-based) to retrieve. Use offset and count together for pagination. Note that the current limit on the total number of results that can be retrieved (offset + count) is 7,500. We reserve the right to decrease or increase this limit based on system capacity and/or other factors. Please see the FAQ page on how to sign up to our email list to be notified of any changes or new features. |
| q | An optional, additional query string used to further constrain the results returned by the "terms" field. Unlike the terms field, "q" is not automatically wildcarded, but can include wildcards and can specify field names. See the Elasticsearch query string page for documentation of supported syntax. | |
| df | name_mod | A comma-separated list of display fields (from the fields section below) which are intended for the user to see when looking at the results. |
| sf | All fields | A comma-separated list of fields to be searched that depends on the base url used (see above). |
| cf | hgnc_id | A field to regard as the "code" for the returned item data. |
| ef | A comma-separated list of additional fields to be returned for each retrieved list item. (See the Output format section for how the data for fields is returned.) If you wish the keys in the returned data hash to be something other than the field names, you can specify an alias for the field name by separating it from its field name with a colon, e.g., "ef=field_name1:alias1,field2,field_name3:alias3,etc. Note that not every field specified in the ef parameter needs to have an alias. |
Genes Field Descriptions
| Field | Field Description (taken from the HGNC website) |
|---|---|
| hgnc_id | A unique ID provided by the HGNC for each gene with an approved symbol. Although standard HGNC IDs are of the format HGNC:n, where n is a number, we have removed the "HGNC:" prefix, so that these values are just numbers. |
| hgnc_id_num | This is the hgnc_id with the "HGNC:" prefix removed, just in case some apps may want the autocomplete to work on the numeric part of the id as well. |
| symbol | The official gene symbol that has been approved by the HGNC. Gene symbols begin with an uppercase letter and are usually limited to 6 characters. |
| location | A marker for the point in the genome that can be mapped by some means. |
| alias_symbol | Other symbols used to refer to this gene. |
| prev_symbol | Displays any symbols that were previously HGNC-approved nomenclature. Many genes will have no data in this field as the symbol will never have been changed. |
| refseq_accession | The gene Reference Sequence (RefSeq) Accession number for the entry, provided by the NCBI. An Accession number is a unique identifier given to a sequence when it is submitted to one of the DNA repositories (GenBank, EMBL, DDBJ). The initial deposition of a sequence record is referred to as version 1. If the sequence is updated, the version number is incremented, but the Accession number remains constant. |
| name | The gene name. |
| name_mod | The "name" field with any parenthetical content removed. |
| alias_name | Other names used to refer to this gene. |
| prev_name | Displays any names that were previously HGNC-approved nomenclature. Many genes will have no data in this field as the name will never have been changed. |
Output format
Output for an API query is an array of the following elements:
- The total number of results on the server, which can be more than the number of results returned. This reported total number of results may also be significantly less than the actual number of results and is limited to 10,000, which may significantly improve the service response time.
- An array of codes for the returned items. (This is the field specified with the cf query parameter above.)
- A hash of the "extra" data requested via the "ef" query parameter above. The keys on the hash are the fields (or their requested aliases) named in the "ef" parameter, and the value for a field is an array of that field's values in the same order as the returned codes.
- An array, with one element for each returned code, where each element is an array of the display strings specified with the "df" query parameter.
- An array, with one element for each returned code, where each element is the "code system" for the returned code. Note that only code-system aware APIs will return this array.
Sample API Queries
| Query | Result | Description |
|---|---|---|
| https://clinicaltables.nlm.nih.gov/api/genes/v4/search?df=symbol&terms=epilepsy | [7,["HGNC:6572","HGNC:16406","HGNC:14270","HGNC:3413","HGNC:2482","HGNC:21576","HGNC:2079"],null,[["LGI1"],["EFHC1"],["PCDH19"],["EPM2A"],["CSTB"],["NHLRC1"],["CLN8"]]] | Returns a count of the gene symbols associated with epilepsy along with a list of the HGNC IDs and their associated gene symbols. |
| https://clinicaltables.nlm.nih.gov/api/genes/v4/search?sf=symbol&terms=SCN1A | [2,["HGNC:10585","HGNC:54069"],null,[["sodium voltage-gated channel alpha subunit 1"],["SCN1A and SCN9A antisense RNA 1"]]] | Returns the HGNC IDs whose gene symbols start with SCN1A along with the official name of the genes. |
| https://clinicaltables.nlm.nih.gov/api/genes/v4/search?sf=symbol&df=refseq_accession&terms=SCN1A | [2,["HGNC:10585","HGNC:54069"],null,[["NM_006920"],["NR_110260"]]] | Returns the HGNC IDs of the genes whose symbols start with SCN1A along with the RefSeq accession numbers of the genes. |