Data Files & API

The API allows programmatic retrieval of information shown on Genetics Home Reference. Use of Genetics Home Reference data is subject to Terms and Conditions of Use.

  • Finding pages

    • Search results are available in XML.

    • Titles, URLs, and synonyms for health-condition, gene, chromosome, mtDNA, and Help Me Understand Genetics pages are available in XML.

  • Detailed information

    • Information from individual health-condition, gene, chromosome, and mtDNA pages is available in JSON and XML.

    • A compendium of all those pages is available in one XML file.

These features are described below.

Search Results

Search results are available in XML. Provide the search term with the "query" parameter and add &show=xml, e.g., https://ghr.nlm.nih.gov/search?query=balance&show=xml.

To retrieve additional results, use the "start" parameter to resume where the first set of results left off: https://ghr.nlm.nih.gov/search?query=balance&show=xml&start=20.

To retrieve only the top result, add &count=1: https://ghr.nlm.nih.gov/search?query=balance&show=xml&count=1.

Topic Index

Titles, URLs, and synonyms for Help Me Understand Genetics pages, and health-condition, gene, chromosome, and mtDNA pages with summaries written for consumers, are available in XML at https://ghr.nlm.nih.gov/download/TopicIndex.xml.

Health Condition & Gene Details

Information from Genetics Home Reference pages is also available in JSON and XML.

  • Information from individual condition, gene, chromosome, and mtDNA pages is available in JSON and XML. Add ?report=json or ?report=xml to the page's URL, e.g., https://ghr.nlm.nih.gov/condition/alzheimer-disease?report=json. To get JSONP that passes the data to a function of your choice, also add &p=somefunction.

  • A compendium of all those XML instances is available in one XML file: https://ghr.nlm.nih.gov/download/ghr-summaries.xml

The data are best interpreted in light of the labeling and context of their respective presentation on Genetics Home Reference, and relevant pages under About.

Notes on certain fields:

A health condition may have multiple inheritance patterns. For example, the combination of "ad" and "ar" means the health condition has an autosomal-dominant inheritance pattern in some cases, and an autosomal-recessive pattern in some other cases.

The "db-key-list" relates the Genetics Home Reference summary record to other databases. The db-key entries are meant as pointers that might help consumers in their research. The linked resource or concept might not strictly match the scope of the Genetics Home Reference record. In particular, the SNOMED CT and ICD-10-CM links were chosen to support the National Library of Medicine's MedlinePlus Connect service and might not be broadly applicable.

Genes' and chromosomes' "related-health-condition-list" reflects health-condition summary records that refer to the gene or chromosome.

Descriptive text from Genetics Home Reference is included when available. For some genes, Genetics Home Reference does not currently have a normal-function summary written for consumers.