What it returns
Every gene-disease validity assertion collected by the Gene Curation Coalition (GenCC) in one searchable API: which genes are established causes of which diseases, how strong the evidence is (Definitive, Strong, Moderate, Limited, Disputed, Refuted), under which inheritance, and according to whom. ClinGen assertions carry their expert panel, SOP version and report link.
A second dataset is a dated change log: assertions that are new, reclassified (for example Limited to Moderate) or removed, so you can follow a gene list without re-downloading the whole file. Before the log started (October 2026) each assertion appears as new on its own submission date.
Sources: GenCC submissions (CC0; please credit GenCC and the submitter) and ClinGen gene-disease validity curations (CC0). Updated weekly.
- Gene: symbol and HGNC ID.
- Disease: MONDO ID and name, plus the submitter's original disease ID.
- Assertion: classification, rank (6 Definitive to 0 Refuted or no known relationship), mode of inheritance, submitter, submission date, PMIDs, public report and assertion criteria links.
- ClinGen extras: gene curation expert panel and SOP version.
- Changes dataset: change date, change type, previous classification.
Common uses
- Checking a gene panel's clinical validity across every major curator at once.
- Spotting disagreement: the same gene and disease with Definitive from one group and Limited or Disputed from another.
- Watching your genes for new or upgraded disease associations.
Request
POST https://api.pushbuild.com/gene-disease-validity/run with a JSON body. Send your key in the X-API-Key header.
| Field | Type | Description |
|---|---|---|
dataset | string: current, changes | current (every assertion now) or changes (dated log of new, reclassified and removed assertions). Default: "current". |
genes | string | Comma-separated HGNC symbols or HGNC IDs. |
diseases | string | MONDO or OMIM IDs, or words from the disease name. |
submitters | string | Words from submitter names, e.g. ClinGen, Ambry, Orphanet. |
classifications | string | Definitive, Strong, Moderate, Supportive, Limited, Disputed Evidence, Refuted Evidence, No Known Disease Relationship. |
inheritance | string | Words from the mode of inheritance, e.g. dominant, recessive, X-linked. |
change | string | changes dataset only: new, reclassified, removed. |
since | string | YYYY-MM-DD: submission date (current) or change date (changes). |
until | string | YYYY-MM-DD. |
newestFirst | boolean | Sort newest first. Default: true. |
offset | integer | Skip this many results (paging). Default: 0. |
maxItems | integer | Maximum items to return (1-500). Default: 100. |
Example
curl -X POST https://api.pushbuild.com/gene-disease-validity/run \
-H "X-API-Key: YOUR_KEY" \
-H "Content-Type: application/json" \
-d '{"genes": "TANC2,SCN2A", "maxItems": 20}'Response
{"count": 20, "truncated": false, "seconds": 1.4, "items": [ { ... } ]}Each call returns up to 500 items. Records that fail validation or are not found are flagged in the items and not charged.
Pricing
Pay only for results returned: $0.08 per 1,000 rows. No charge for errors or empty searches.
Related APIs
ClinGen Dosage Sensitivity Changes Feed API
Daily change log of ClinGen dosage sensitivity curations since 2022: new, changed and removed gene and region curations with haploinsufficiency and triplosensitivity scores, previous values, the fields that changed, disease, PMIDs and GRCh38 location.
ClinVar Reclassifications Feed API
Every month-over-month ClinVar change since January 2025: variants reclassified (VUS to likely pathogenic, pathogenic to benign and back), review-status upgrades, new and removed variants, with previous and current classification, direction, gene, HGVS name, conditions and GRCh38 position.
Tell us what you need built.
Questions about this API, higher volumes, or a data source you need that we don't cover yet.
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