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Research tool·clinical·clingen_dosage

ClinGen Dosage By Gene

Get ClinGen dosage sensitivity curation for a specific gene using the JSON API. Returns haploinsufficiency (HI) and triplosensitivity (TS) assertion scores with genomic coordinates in both GRCh37 and GRCh38. Scores: 0=No evidence, 1=Little evidence, 2=Emerging evidence, 3=Sufficient evidence, 30=Gene associated with autosomal recessive phenotype, 40=Dosage sensitivity unlikely. Also includes pLI score, HI prediction score, and associated diseases with MONDO IDs.

AvailableCortexa

Schema

JSON Schema the agent (or your API call) must match.

View JSON schemaExpandCollapse
JSON · 12 lines · 222 chars

Examples (1)

Default ClinGen Dosage By Gene call

Public-safe example · rate-limited

JSON input · 3 lines · 21 chars
Expected response keys: success

Identifiers

Catalog ID
tu_ClinGen_dosage_by_gene
Tool name
ClinGen_dosage_by_gene
Added
2026-05-01 00:58Z
Tags
tooluniverse
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