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ClinGen Dosage Sensitivity Changes Feed - Daily Gene and Region Curations

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. Built from the ClinGen daily archive (CC0).

$0.08 per 1,000 rows

Get an API key

What it returns

A daily change log of ClinGen's dosage sensitivity curations since January 2022: genes and genomic regions whose haploinsufficiency or triplosensitivity score was added, changed or withdrawn, with the previous values beside the new ones. Useful for CNV interpretation: when a region's score moves, past copy-number calls that relied on it may need another look.

Built by diffing the ClinGen dosage curation files (GRCh38) day by day from the ClinGen archive (CC0). Updated daily.

  • Curation: gene symbol or ClinGen region ID (ISCA-...), name, NCBI gene ID, cytoband, GRCh38 location.
  • Scores: haploinsufficiency and triplosensitivity scores (0, 1, 2, 3, 30 autosomal recessive, 40 dosage sensitivity unlikely), the associated disease (MONDO), and supporting PMIDs.
  • Change: new, changed or removed, the list of fields that changed, and the previous value of each.

Common uses

  • Watching the genes and regions on a CNV panel for score changes.
  • Finding regions newly scored 3 (sufficient evidence) since a date.
  • Tracking ClinGen curation activity over time.

Request

POST https://api.pushbuild.com/clingen-dosage-changes/run with a JSON body. Send your key in the X-API-Key header.

FieldTypeDescription
genesstringComma-separated gene symbols or ClinGen region IDs (ISCA-...).
kindstringgene or region.
changestringnew, changed, removed; comma-separated.
changedFieldsstringOnly changes touching these fields, e.g. haploinsufficiencyScore,triplosensitivityScore.
sincestringYYYY-MM-DD (data starts 2022-01-01).
untilstringYYYY-MM-DD.
newestFirstbooleanSort newest first. Default: true.
offsetintegerSkip this many results (paging). Default: 0.
maxItemsintegerMaximum items to return (1-500). Default: 100.

Example

curl -X POST https://api.pushbuild.com/clingen-dosage-changes/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: $0.08 per 1,000 rows. No charge for errors or empty searches.

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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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