myvariant.info

What It Is

MyVariant.info is a variant annotation lookup service maintained by the BioThings team associated with The Scripps Research Institute. It is positioned as a REST Web API for bioinformatics researchers and resource developers. It aggregates variant annotations from multiple popular data resources and can be used to enrich newly discovered variants with up-to-date annotations, or to search known variants by gene, score, source database, and other criteria. The site clearly states that the resource is for research purposes only and should not be used for emergency, medical, or professional advice.

Core Features and Technical Highlights

At its core, MyVariant.info provides a simple, high-performance REST API with support for HTTP/HTTPS, POST requests, and batch queries. It also offers a Live API, sample queries, documentation, and an API status page. For data updates, the site emphasizes that annotation sources are kept up to date, with weekly updated annotations. In terms of reference genomes, hg19-based HGVS ids are used by default as the _id for variant objects, while variants may also include positional attributes for both GRCh37/hg19 and GRCh38/hg38. Queries can also switch to hg38 intervals via parameters. As for output formats, JSON is currently the only supported format; XML is not provided.

Open Source, Ecosystem, and Support

The project’s source code is hosted on GitHub, making it suitable for technical teams that need to inspect the implementation or participate in community feedback. MyVariant.info is part of the BioThings APIs ecosystem, alongside resources such as MyGene and MyChem, all aimed at FAIR access to biological data. The site lists several resources and tools based on or associated with BioThings APIs, including CIViC, VAPr, MyVariantViewer, jbrowse plugin, and myvariantjs, indicating that it has an established presence in the research tooling ecosystem. Support channels include a mailing list, GitHub Issues, BioStars tags, and social media.

Pricing and Self-Hosting

The site does not provide information on pricing, plans, free quotas, rate limits, or SLAs, so its commercial model should not be inferred. Based on the description, the value of MyVariant.info lies in enabling developers to add variant annotation capabilities to web applications without maintaining a local database backend. However, the site does not explicitly state that official self-hosted deployment is supported, even though the code is visible on GitHub.

Pros, Cons, and Best-Fit Users

Its strengths include a clear API model, broad data aggregation, frequent updates, and good support for batch queries and integration into research-oriented web applications. Its limitations are that it has a high domain-specific learning curve, the text does not provide a full commercial-grade service commitment, and the terms make no guarantees regarding accuracy, completeness, or fitness for a particular purpose. It is best suited for universities, research institutions, bioinformatics teams, and developers building tools for variant analysis, annotation, filtering, or visualization.

Access from China

The site does not provide information about network access from mainland China, payment, or localization support, so its access status should be considered unknown. For use in domestic research environments, it is advisable to test API connectivity, latency, and stability in practice. It may also be compared with or used alongside alternative or complementary resources such as ClinVar, Ensembl VEP, CIViC, and other BioThings APIs.