What it returns
One call per copy-number variant: give the interval and genome build of a deletion or duplication, and get back the public evidence a curator gathers by hand. That means ClinGen dosage-sensitive genes and regions inside the call and within 1 Mb either side (array breakpoints under-call, and the driver is often just outside), ClinVar CNVs ranked by reciprocal overlap, every protein-coding gene with its haploinsufficiency and triplosensitivity scores, gnomAD constraint and gene-disease validity, and the facts for sections 1 to 3 of the 2019 ACMG/ClinGen CNV scoring framework.
Coordinates come back in both GRCh37 (hg19) and GRCh38 (hg38). The API reports evidence per criterion and never scores or classifies the CNV; that call stays with the curator.
Sources: ClinGen dosage sensitivity curations (CC0), ClinVar variant_summary (public domain), NCBI MANE Select (public domain), gnomAD v4.1 and v2.1.1 constraint (CC0), GenCC (CC0). Refreshed weekly.
- Dosage: ClinGen genes and regions inside the CNV or in the flank, with placement (contained at 95% or more by default, partial, contains the CNV, flank), the fraction of the feature and of the CNV covered, distance, HI and TS scores, disease IDs, PMIDs, last evaluated date, and coordinates in both builds.
- Genes: protein-coding genes in the CNV and in the flank (with distance), each with MANE transcript, HI/TS score, pLI, LOEUF and missense Z (gnomAD v4.1 and v2.1.1), and gene-disease validity (best classification per disease and inheritance, with submitters).
- ClinVar CNVs: losses and gains of 1 kb or more overlapping the call, with classification, review status, size, reciprocal overlap and coordinates in both builds.
- Evidence: section 1 (gene content), section 2 (established HI or TS genes and regions contained, partially overlapped or just outside; benign regions; constrained genes inside and in the flank, by gnomAD v4 LOEUF < 0.6, v2 LOEUF < 0.35 and pLI >= 0.9; same-type pathogenic and benign ClinVar CNVs at 50% or more reciprocal overlap, counted by review status), section 3 (protein-coding gene count and its range).
Common uses
- Cytogenetics and array labs triaging deletions and duplications.
- Pre-filling a CNV interpretation worksheet with sources attached.
- Checking whether a dosage-sensitive gene sits just beyond a call's breakpoints.
Request
POST https://api.pushbuild.com/cnv-region-pack/run with a JSON body. Send your key in the X-API-Key header.
| Field | Type | Description |
|---|---|---|
region | string | chr:start-end, e.g. chr16:29600000-30200000. |
build | string: GRCh37, GRCh38, hg19, hg38 | GRCh37 (hg19) or GRCh38 (hg38). Default: "GRCh38". |
cnvType | string: loss, gain, del, dup | loss (deletion) or gain (duplication); leave empty for both. |
flank | integer | Also list dosage genes and regions this far either side (default 1,000,000; max 5,000,000). Default: 1000000. |
minReciprocalOverlap | number | Only ClinVar CNVs at or above this reciprocal overlap (0-1). Default: 0. |
sameTypeOnly | boolean | Only ClinVar CNVs of the same type as cnvType. Default: false. |
maxClinvar | integer | Maximum ClinVar CNVs listed, highest overlap first (default 200). Default: 200. |
containTolerance | number | A gene or region counts as contained when the CNV covers at least this fraction of it (default 0.95); raw fractions are always returned. Default: 0.95. |
maxItems | integer | Maximum items to return (1-500). Default: 100. |
Example
curl -X POST https://api.pushbuild.com/cnv-region-pack/run \
-H "X-API-Key: YOUR_KEY" \
-H "Content-Type: application/json" \
-d '{"region": "chr16:29600000-30200000", "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: $1.60 per 1,000 region reports. 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.
Gene Dosage Dossier API
For each gene: ClinGen haploinsufficiency and triplosensitivity scores with their history, gnomAD v4.1 and v2.1.1 constraint, pHaplo/pTriplo, gene-disease validity, ClinVar CNVs over the gene in hg19 and hg38, and every PubMed paper since the last dosage evaluation, split into HI and TS sections..
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.
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Questions about this API, higher volumes, or a data source you need that we don't cover yet.
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