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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