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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