One of the bottlenecks in human biomedical research is finding datasets that researchers can analyse using new approaches. Developed by the GA4GH Discovery Work Stream, the Beacon API is a simple data discovery tool that allows someone to search genomic and biomedical data worldwide, helping researchers find new datasets without compromising dataset privacy or ownership.

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Benefits

• Allows users to query for biological data, phenotypic/clinical data, and metadata
• Accepts queries using semantic codes such as CURIEs (e.g. phenotypes, disease codes, sex, or age)
• Shows who to contact or where the data could be accessed and which are the data use conditions in order to get the data
• Offers the possibility to query for the annotations on the variants found, including expert or clinician conclusions — when available — on the pathogenicity of a specific mutation in an individual or its contribution to a particular phenotype
• Gives information about cohorts and/or study

Target users

Researchers, clinicians, data generators, data custodians, data protection authorities, and developers