What it returns
Everything a dosage curator gathers for a gene, in one call: the current ClinGen haploinsufficiency (HI) and triplosensitivity (TS) scores and how they have changed, population constraint, published dosage-sensitivity predictions, gene-disease validity, the ClinVar copy-number variants over the gene, and the PubMed literature published since the gene was last evaluated.
- ClinGen dosage: HI and TS scores with labels, disease ids, the curated PMIDs, last-evaluated date, and the score history recorded from the ClinGen feed since December 2020.
- Haploinsufficiency section: HI score, pHaplo, gnomAD v4.1 pLI / LOEUF / missense Z (with the transcript used) and v2.1.1 values, plus PubMed papers on deletions and loss of function since the last evaluation: the total, every PMID (newest first, up to 200) and the 5 most relevant with titles.
- Triplosensitivity section: TS score, pTriplo, and the same literature block for duplications and gains.
- ClinVar CNVs (1 kb and over) over the gene in GRCh37 and GRCh38, split into losses and gains: counts by classification, median size, how many hit only this gene or lie inside it, and the smallest pathogenic ones.
- Gene-disease validity: the best GenCC classification per disease and inheritance, with submitters.
Genes never curated by ClinGen still get constraint, CNVs, validity and all-time literature.
Request
POST https://api.pushbuild.com/gene-dosage-dossier/run with a JSON body. Send your key in the X-API-Key header.
| Field | Type | Description |
|---|---|---|
genes required | list of strings | HGNC symbols or HGNC ids, up to 20, e.g. TANC2. |
keyPapers | integer | Most relevant PubMed papers listed with titles in each of the HI and TS sections (0-5, default 5). All PMIDs since the last evaluation are always returned. Default: 5. |
maxItems | integer | Maximum items to return (1-500). Default: 100. |
Example
curl -X POST https://api.pushbuild.com/gene-dosage-dossier/run \
-H "X-API-Key: YOUR_KEY" \
-H "Content-Type: application/json" \
-d '{"genes": ["TANC2"], "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: $2.40 per 1,000 gene dossiers. 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.
CNV Region Pack API
Give a copy-number call (interval and build) and get the ClinGen dosage-sensitive genes and regions inside it and within 1 Mb, ClinVar CNVs with reciprocal overlap, protein-coding genes with HI/TS scores, gnomAD constraint and gene-disease validity, and the evidence for sections 1-3 of the ACMG/ClinGen CNV scoring framework.
Gene-Disease Validity API
Every gene-disease validity assertion in GenCC (ClinGen, Labcorp/Invitae, Ambry, Orphanet, G2P, PanelApp and more): classification from Definitive to Refuted, inheritance, MONDO disease, submitter, date, PMIDs and report links, with ClinGen expert panel and SOP.
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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