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Research tool·genomics·pheweb_phewas

Genebass Gene Burden Phewas

Exome-wide gene-level burden PheWAS from Genebass (UK Biobank ~394K exomes, SAIGE-GENE+). Given one gene, returns its rare-variant burden association across ~4,500 phenotypes (GRCh38), sorted by p-value. Aggregates rare coding variants into a single gene-level test, complementing single-variant PheWAS. Accepts an Ensembl gene ID (ENSG...) or a gene symbol (auto-resolved via Ensembl). Choose a burden_set: pLoF (predicted loss-of-function, default), missense|LC, or synonymous.

AvailableCortexa

Schema

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

View JSON schemaExpandCollapse
JSON · 29 lines · 921 chars

Examples (1)

Default Genebass Gene Burden Phewas call

Public-safe example · rate-limited

JSON input · 6 lines · 87 chars
Expected response keys: success

Identifiers

Catalog ID
tu_Genebass_gene_burden_phewas
Tool name
Genebass_gene_burden_phewas
Added
2026-07-29 18:13Z
Tags
tooluniverse
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