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Variant Calling Pipeline

Find Your Answers Within The Hidden Mutations In Your DNA

  • Zero-code variant detection - Upload raw FASTQ files and let the pipeline handle alignment, variant calling, filtering and annotation end-to-end
  • Clinical-grade accuracy - SNPs, indels, structural variants and copy number variants identified using GATK HaplotypeCaller and multi-tool validation
  • Expert-backed interpretation - Annotated VCF reports with IGV visualizations your team can act on immediately
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Built For The Mutations That Actually Matter

  • Germline and somatic variant detection
  • WGS and WES data supported
  • Multi-tool structural variant analysis
  • Automated VCF filtering and annotation
  • IGV visualization included in every report

Globally Trusted By Clinicians And Researchers

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  • Pre-Processing
  • Post-Processing
  • Reports
  • Deliverables

Clean Data. Zero Compromises.

Raw FASTQ files run through QC, trimming, indexing and alignment automatically. Every read lands exactly where it belongs before a single variant is called.

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Counts Become Biology Here

The aligned reads are analyzed at each genomic position to detect single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants. These identified variants are then filtered and annotated to distinguish true biological signals from sequencing errors, enabling downstream analysis of genetic variation.

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See Your Data. Get The Story.

Two interactive HTML reports Pre-Processing and Post-Processing delivered directly to your dashboard. Visual, shareable, and presentation-ready from the moment they land.

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Packaged. Publication-Ready Result.

From raw files to final figures every deliverable you need to write your paper or present your findings is waiting in your dashboard the moment the run finishes.

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Our Pipeline Modules

Even One Missed Mutation Matters.

Inherited Variants

Detect SNPs and indels against a reference genome with support for family trio analysis and inherited disease research.

Tumor Mutations

Isolates what changed in the cancer cell. Somatic SNVs and structural variants flagged with clinical precision.

Variant Annotation

Transform raw VCF files into meaningful biological insights using Funcotator, SNPeff, and gnomAD annotation pipelines.

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Research Teams

No pipeline Mess. Just Clean Variant Analysis.

GenomeBeans delivers the full variant calling stack detection, filtering, annotation and visualization automatically.

What exactly is variant calling and why does it matter?

Variant calling finds the differences between a sequenced genome and a reference SNPs, insertions, deletions and structural changes. These are the genetic basis of inherited disease, cancer mutations and population diversity. Every downstream analysis starts here. Get this wrong and everything built on top of it is unreliable.

What is the difference between germline and somatic variant calling?

Germline variants are inherited present in every cell and passed to offspring. Somatic variants arise after conception, typically in tumor cells, found by comparing tumor and normal tissue from the same patient. The tools used for each are completely different. GenomeBeans handles both in the same automated pipeline.

Does GenomeBeans support both WGS and WES data?

Yes. Both whole genome sequencing and whole exome sequencing inputs are fully supported. Upload your raw FASTQ files and the platform automatically selects the right alignment and variant calling parameters. No manual configuration needed.

What databases are used to annotate variants?

Variants are annotated using multiple reference databases including dbNSFP, ClinVar, dbSNP, dbscSNV, gnomAD, and the 1000 Genomes Project. Together, these resources provide information on known variants, population allele frequencies, clinical significance, functional predictions, and splice-site impact. This comprehensive annotation framework helps prioritize potentially pathogenic variants and distinguish rare disease-associated variants from common benign polymorphisms.

What does the variant report actually include?

A fully annotated VCF file, hard-filtered SNP and indel tables, functional impact annotations, population frequency data and IGV visualizations all packed into one interactive HTML report you can open in any browser and share instantly.

Is my sequencing data safe and private?

100% private. You own everything you upload. It is never shared. Never sold. Results are securely archived for 90 days then permanently deleted from our servers. No exceptions. No fine print.

Ready To Find Every Mutation That Matters?