What is genome annotation?
Annotation adds technical context to existing variants, such as affected genes, transcript consequences, and locally installed reference-database entries. It does not sequence DNA or provide a clinical interpretation.
LOCAL · OFFLINE · RESEARCH ANNOTATION
Genome Annotator
What this service provides
Upload an already generated variant or genotype file. The service automatically detects the format and genome reference and, after successful technical validation, creates a local VEP research annotation.
You receive an annotated VCF and an interactive, searchable HTML report. The service provides no diagnosis, personal risk assessment, PRS, or medical or lifestyle recommendation.
01Validate automaticallyFormat, build, and variant count are detected.
02Annotate locallyProcessing takes place within the European Union.
03Download privatelyYour result is available through a private link.
START ANNOTATION
Upload genome data securely
Supported: VCF, BCF, single-sample gVCF, 23andMe, MyHeritage, AncestryDNA, FamilyTreeDNA Family Finder, Living DNA, generic genotype tables, and ZIP archives containing exactly one supported file.
Not supported: FASTQ, BAM, CRAM, PLINK, and MAF. Maximum file size: 12 GiB.
Interactive reportSearch, filters, variant context, and technical explanations in one downloadable HTML file.
Scientific limitsClinVar and prediction matches are not clinical confirmation. No match is not a negative genetic test.
RetentionResults are deleted automatically after 7 days. Treat private links like passwords.
Understand VCF files and consumer DNA raw data
Genoquill is a privacy-focused genome annotator for existing variant data. It validates supported VCF, gVCF, BCF, and consumer DNA formats, automatically identifies GRCh37 or GRCh38, and annotates variants locally with Ensembl VEP. Supported raw-data providers include 23andMe, MyHeritage, AncestryDNA, FamilyTreeDNA Family Finder, and Living DNA.
How is GRCh37 or GRCh38 detected?
The service examines file headers, chromosome lengths, provider format, and reference-allele concordance. Manual reference-genome selection is normally unnecessary.
Does genomic data remain private?
Validation, annotation, and report generation run on infrastructure within the European Union. Genome files are not submitted to external research databases and are deleted after completion or failure.
Is the report a medical test?
No. The report is solely for research and education. It is not a diagnosis, genetic counselling, or a personal risk assessment and must not guide medical decisions.