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Research tool·genomics·pheweb_phewas
UKBTOPMed Phewas By Variant
Phenome-wide association study (PheWAS) lookup for a single variant in the UKB-TOPMed PheWeb (UK Biobank, ~400K European-ancestry samples, 1,400+ phecode phenotypes). Returns every phenotype associated with the variant, sorted by p-value. Accepts an rsID (auto-resolved to GRCh38 via Ensembl) or an explicit chr:pos:ref:alt variant in GRCh38. Use for variant pleiotropy assessment and replication in a European population.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
JSON · 26 lines · 843 chars
Examples (1)
Default UKBTOPMed Phewas By Variant call
Public-safe example · rate-limited
JSON input · 6 lines · 90 chars
Expected response keys: success
Identifiers
- Catalog ID
- tu_UKBTOPMed_phewas_by_variant
- Tool name
- UKBTOPMed_phewas_by_variant
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse