#genetics

Polygenic (risk) scores as an API — powered by the NHGRI-EBI PGS Catalog, the open database of published polygenic scores: weighted combinations of genetic variants used to estimate a person's genetic predisposition to a trait or disease. Search traits by name to find their ontology ids, list every polygenic score developed for a trait, and read a score's full metadata — the reported and mapped (EFO/MONDO) traits, the number of variants in the score, the development method, genome build, the ancestry distribution of the samples it was built and evaluated on, the publication behind it (title, journal, date, PubMed id), the release date, license and a direct link to the scoring file. From breast cancer and coronary artery disease to type 2 diabetes and BMI, it is ideal for statistical genetics, genomics, risk-prediction research and bioinformatics tools. A polygenic-score / genetic-risk-prediction resource — distinct from single-variant association studies (GWAS Catalog), population allele frequencies (gnomAD) and clinical variant interpretation (ClinVar). Open data from the NHGRI-EBI PGS Catalog (CC BY 4.0).

api.oanor.com/pgs-api

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

ClinVar as an API, powered by the US National Library of Medicine via NCBI E-utilities. ClinVar is the public archive of the relationships between human genetic variants and health, recording the clinical significance (interpretation) of each variant — whether it is Pathogenic, Likely pathogenic, of Uncertain significance, Likely benign or Benign — together with the conditions it is associated with. /v1/search?gene=BRCA1 searches ClinVar by gene symbol, or by free text with q= (e.g. a disease or HGVS expression), returning the total number of matching variants and a list of ClinVar variation ids. /v1/variant?id=4852102 returns a variant's summary: its ClinVar accession (VCV…), title, variant type, the variation and cDNA names, the clinical classification and review status, the associated condition(s), the gene(s) and primary gene, the chromosome and location, the protein change and the molecular consequence, plus a link to the ClinVar record. Get a variation id from /v1/search, then fetch its details. Ideal for clinical-genomics and variant-annotation pipelines, rare-disease and genetic-counselling tools, and research dashboards. Data from NCBI ClinVar (public domain). This is clinical variant interpretation — distinct from population allele-frequency databases (such as gnomAD) and from protein/sequence databases. Please keep request rates modest under NCBI fair-use.

api.oanor.com/clinvar-api

Drug target–disease associations as an API, powered by the Open Targets Platform. Open Targets integrates human genetics, genomics, transcriptomics, known drugs, animal models and the scientific literature to systematically score how strongly a target (gene/protein) is associated with a disease — the evidence that underpins modern drug discovery. Search across targets, diseases and drugs; read a target for its approved symbol, biotype, function, genomic location and UniProt ids together with the diseases it is most strongly associated with and their overall association scores; read a disease for its description, therapeutic areas and its top associated targets with scores; and read a drug for its modality, maximum clinical stage, trade names, synonyms and mechanisms of action. Ideal for drug-discovery and target-identification pipelines, therapeutic-area research, biomedical data science and pharma intelligence tools. Target ids are Ensembl gene ids, disease ids are EFO/MONDO/Orphanet ids, drug ids are ChEMBL ids. Data is open (CC0).

api.oanor.com/opentargets-api