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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 8-107251871-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=107251871&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 107251871,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001146.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.1481G>C",
          "hgvs_p": "p.Arg494Pro",
          "transcript": "NM_001146.5",
          "protein_id": "NP_001137.2",
          "transcript_support_level": null,
          "aa_start": 494,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": 1481,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": 1841,
          "cdna_end": null,
          "cdna_length": 4230,
          "mane_select": "ENST00000517746.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.1481G>C",
          "hgvs_p": "p.Arg494Pro",
          "transcript": "ENST00000517746.6",
          "protein_id": "ENSP00000428340.1",
          "transcript_support_level": 1,
          "aa_start": 494,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": 1481,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": 1841,
          "cdna_end": null,
          "cdna_length": 4230,
          "mane_select": "NM_001146.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.1478G>C",
          "hgvs_p": "p.Arg493Pro",
          "transcript": "ENST00000297450.7",
          "protein_id": "ENSP00000297450.3",
          "transcript_support_level": 1,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1478,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1975,
          "cdna_end": null,
          "cdna_length": 4353,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.1478G>C",
          "hgvs_p": "p.Arg493Pro",
          "transcript": "NM_001199859.3",
          "protein_id": "NP_001186788.1",
          "transcript_support_level": null,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1478,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1838,
          "cdna_end": null,
          "cdna_length": 4227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.881G>C",
          "hgvs_p": "p.Arg294Pro",
          "transcript": "NM_001314051.2",
          "protein_id": "NP_001300980.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 1167,
          "cdna_end": null,
          "cdna_length": 3556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.881G>C",
          "hgvs_p": "p.Arg294Pro",
          "transcript": "ENST00000520734.5",
          "protein_id": "ENSP00000430750.1",
          "transcript_support_level": 2,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 1167,
          "cdna_end": null,
          "cdna_length": 1526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "c.878G>C",
          "hgvs_p": "p.Arg293Pro",
          "transcript": "ENST00000520052.1",
          "protein_id": "ENSP00000429349.1",
          "transcript_support_level": 5,
          "aa_start": 293,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 878,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 1164,
          "cdna_end": null,
          "cdna_length": 1523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANGPT1",
          "gene_hgnc_id": 484,
          "hgvs_c": "n.469G>C",
          "hgvs_p": null,
          "transcript": "ENST00000518386.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 813,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ANGPT1",
      "gene_hgnc_id": 484,
      "dbsnp": "rs377442517",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9616587162017822,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": 0.932,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9987,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.39,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_001146.5",
          "gene_symbol": "ANGPT1",
          "hgnc_id": 484,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.1481G>C",
          "hgvs_p": "p.Arg494Pro"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}