Cortexa 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.

Livelast probed 2026-05-01 01:00Z· 1941msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 1941ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Gene symbol to search for (e.g., 'BRCA1', 'MECP2', 'TP53'). Case-insensitive.",
      "type": "string"
    }
  },
  "required": [
    "gene"
  ],
  "type": "object"
}

Examples (1)

Default ClinGen Dosage By Gene call

public-safeinput

{
  "gene": "BRCA1"
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

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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