Genomics · Database
ClinVar
A public archive of human genomic variants and their clinical significance assertions across diseases and drug responses.
What ClinVar is
ClinVar is a public archive that aggregates information regarding human genetic variation and its relationship to human health. Hosted by the National Center for Biotechnology Information (NCBI), the resource collects assertions on the clinical significance of variants classified for diseases, phenotypes, and drug responses, alongside supporting evidence.
The repository addresses the challenge of centralising clinical interpretation data across global laboratories. It enables researchers and clinicians to review evidence-backed interpretations for germline and somatic variants of any size, type, or genomic location, drawing on voluntary contributions from clinical diagnostic laboratories, research institutions, genetics clinics, and expert panels.
How it is organised
ClinVar organises data submitted voluntarily by international organisations, including diagnostic laboratories, research teams, patient registries, and guideline groups. The system models submissions through two main record types: VCV records, which aggregate multiple interpretations for a single variant across different submissions, and RCV records, which display submissions grouped by specific condition.
Records capture the variant assertion, clinical significance, review status, and identity of the submitter. Users can query data via genomic coordinates in GRCh37 or GRCh38 assemblies, gene names, diseases, or variant identifiers. Data access is supported interactively via web search interfaces, as batch files by FTP, and programmatically through NCBI E-utilities and APIs alongside databases such as dbSNP and Gene.
Key facts
- Total variants
- 4,686,538
- Total submissions
- 7,376,790
- Contributing submitters
- 3,577 from 100 countries
- Supported genome assemblies
- GRCh37 and GRCh38
- Scope of variations
- Germline and somatic variants of any size, type, or genomic location
- Access methods
- Web interface, FTP download, and programmatic API via NCBI E-utilities
- Hosting organisation
- National Center for Biotechnology Information (NCBI)
What you can use it for
- Variant Clinical Interpretation
- Examine submitted clinical assertions and evidence to understand how a human variant relates to a specific disease phenotype.
- Pharmacogenomics Assessment
- Identify reported genetic variations classified for altered drug responses and therapeutic sensitivity.
- Genomic Annotation Pipelines
- Integrate bulk variant classifications and review statuses into bioinformatics workflows via FTP downloads or NCBI E-utilities APIs.
- Cross-Laboratory Comparison
- Compare independent variant classifications across multiple clinical testing laboratories and expert panels using VCV and RCV records.
Query it here
The research agent queries ClinVar directly — no account, no API key — and every answer links back to the record it came from. Ask in plain language and it writes the query.
Strengths and limits
Good at
- Provides aggregated variant-level views (VCV) as well as condition-specific views (RCV) for each assertion.
- Supports programmatic querying via NCBI E-utilities alongside dbSNP and Gene, as well as bulk data acquisition via FTP.
- Covers both germline and somatic variants regardless of type, size, or genomic location.
Watch out for
- Submissions are not independently verified by the National Institutes of Health.
- Data is not intended for direct clinical diagnostic use or health decision-making without evaluation by a genetics professional.
- Relies entirely on voluntary data sharing from external submitters, leading to variable submission depths across loci.
Questions
Can I search ClinVar without writing code?
Yes. The research agent queries ClinVar directly, with no account or API key, and cites the record behind every answer. Ask in plain language — for a gene, a protein, a compound or a study — and it builds the query for you.
Can I reuse data from ClinVar?
ClinVar publishes its own terms of use; read them on https://www.ncbi.nlm.nih.gov/clinvar/ before reusing its records.
What is the difference between a VCV and an RCV record?
A VCV record aggregates all submissions and interpretations associated with a single variant, whereas an RCV record organizes and presents assertions specific to a particular condition or disease associated with that variant.
Which genomic reference builds are supported?
ClinVar supports searches and coordinate mapping across both the GRCh37 and GRCh38 human reference assemblies.
How can ClinVar data be accessed programmatically?
Data can be retrieved programmatically using the ClinVar API and NCBI E-utilities, which operate alongside other NCBI databases such as Gene and dbSNP.
Who contributes variant data to ClinVar?
Contributors include clinical testing laboratories, research laboratories, genetics clinics, patient registries, locus-specific databases, expert panels, UniProt, and professional guideline bodies.
Written from ClinVar's own website and reference material. Statements citing a figure that does not appear there are removed before publication. Licence and running details come from our registry.