Prerequisites
Active Account
Create an account at humanome.ai or log in
VCF File
Prepared genomic data in VCF format (optional for quick demo)
API Key
For programmatic access (available in settings)
Create or Log In to Your Account
Visit humanome.ai and sign up for a free account or log in if you already have one.
Free tier includes: 1,000 variant analyses, basic classifications, and access to core features
Navigate to the Classify Section
Once logged in, click on the "Classify" button in the navigation menu to access the classification interface.
Go to Classify
Enter Variant Information
Fill in the variant details to analyze:
Gene Symbol
e.g., BRCA1, TP53, CFTR
Variant Nomenclature
e.g., c.5266dupC, p.Gln1756fs
Chromosome & Position
e.g., chr17:41234567 (optional)
Review Analysis Results
Our AI engine will analyze the variant and provide:
- •ACMG/AMP classification (Benign, Likely Benign, VUS, Likely Pathogenic, Pathogenic)
- •Confidence scoring and supporting criteria
- •Database cross-references (ClinVar, gnomAD, COSMIC)
- •Clinical significance and allele frequency
Create or Manage Cases
Organize your work by creating cases. Each case can contain multiple variants and analysis notes.
Go to Cases
Next Steps
💡 Pro Tips
- •Use gene symbols from standard nomenclature for best results
- •Check your analysis quota in account settings
- •Save important classifications for future reference
- •Export reports for clinical documentation