EnsemblPheno Get By Region

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.