#snp

Human genetic trait associations as an API — powered by the NHGRI-EBI GWAS Catalog, the curated reference of published genome-wide association studies. It answers the core question of statistical genetics: which genetic variants (SNPs) are associated with which traits and diseases, and how strongly. Look up a SNP to get its functional class, genomic location and mapped genes; pull every trait association reported for it — the trait, p-value, effect size (odds ratio or beta), risk allele and frequency, and author-reported genes; and read the study behind the evidence — trait, sample sizes, ancestries, genotyping technology and the publication (PubMed id, authors, journal, date). From type 2 diabetes and Crohn disease to systemic lupus erythematosus and hundreds of thousands of associations, it is ideal for genomics, bioinformatics, statistical-genetics and biomedical research tools. A published genetic-association evidence base — distinct from population allele frequencies (gnomAD), clinical variant interpretation (ClinVar) and genome annotation (Ensembl). Open data from the NHGRI-EBI GWAS Catalog (EMBL-EBI).

api.oanor.com/gwas-api