Gnomad Get Constraint
Get gene-level constraint metrics from gnomAD (Genome Aggregation Database) for a single gene, given a gene symbol (e.g. BRCA1) OR an Ensembl gene ID (e.g. ENSG00000012048). Returns a flat, curated summary: pLI (probability of loss-of-function intolerance), oe_lof (observed/expected LoF ratio) with its lower/upper confidence bounds, LOEUF (= oe_lof_upper, the recommended constraint metric; lower = more constrained), missense Z-score (mis_z), synonymous Z-score (syn_z), and expected/observed LoF…
Overview
Get gene-level constraint metrics from gnomAD (Genome Aggregation Database) for a single gene, given a gene symbol (e.g. BRCA1) OR an Ensembl gene ID (e.g. ENSG00000012048). Returns a flat, curated summary: pLI (probability of loss-of-function intolerance), oe_lof (observed/expected LoF ratio) with its lower/upper confidence bounds, LOEUF (= oe_lof_upper, the recommended constraint metric; lower = more constrained), missense Z-score (mis_z), synonymous Z-score (syn_z), and expected/observed LoF counts (exp_lof, obs_lof). The `dataset` parameter selects the constraint release: gnomad_r4 (default) and gnomad_r3 use GRCh38 (gnomAD v4 constraint); gnomad_r2_1 and exac use GRCh37. Note: gnomAD uses current HGNC symbols (e.g. GBA1, not GBA). No API key required.
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
Examples (1)
Default Gnomad Get Constraint call
Public-safe example · rate-limited
Identifiers
- Catalog ID
- tu_gnomad_get_constraint
- Tool name
- gnomad_get_constraint
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse