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EnsemblPheno get by region
by Harvard MIMS Lab (ToolUniverse)
Description
Get phenotype associations for all variants and genes in a genomic region from the Ensembl REST API. Returns disease/trait associations from GWAS catalog, ClinVar, Cancer Gene Census, etc. for features overlapping the specified region. Useful for understanding the phenotypic landscape of a genomic interval, especially for interpreting GWAS loci or candidate regions. Example: TP53 region (chr17:7661779-7687538) returns phenotype associations from the NHGRI-EBI GWAS catalog.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse ensembl-phenotype phenotype-associations genomics