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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: 6-31641834-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31641834&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 31641834,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000676615.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "NM_001387994.1",
          "protein_id": "NP_001374923.1",
          "transcript_support_level": null,
          "aa_start": 816,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2447,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 2698,
          "cdna_end": null,
          "cdna_length": 3843,
          "mane_select": "ENST00000676615.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "ENST00000676615.2",
          "protein_id": "ENSP00000502941.1",
          "transcript_support_level": null,
          "aa_start": 816,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2447,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 2698,
          "cdna_end": null,
          "cdna_length": 3843,
          "mane_select": "NM_001387994.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2339G>A",
          "hgvs_p": "p.Arg780Gln",
          "transcript": "ENST00000211379.9",
          "protein_id": "ENSP00000211379.5",
          "transcript_support_level": 1,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2339,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2634,
          "cdna_end": null,
          "cdna_length": 3779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2339G>A",
          "hgvs_p": "p.Arg780Gln",
          "transcript": "ENST00000375976.8",
          "protein_id": "ENSP00000365143.4",
          "transcript_support_level": 1,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2339,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2499,
          "cdna_end": null,
          "cdna_length": 3644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2261G>A",
          "hgvs_p": "p.Arg754Gln",
          "transcript": "ENST00000375964.11",
          "protein_id": "ENSP00000365131.6",
          "transcript_support_level": 1,
          "aa_start": 754,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 2261,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": 2556,
          "cdna_end": null,
          "cdna_length": 3701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2480G>A",
          "hgvs_p": "p.Arg827Gln",
          "transcript": "ENST00000676571.1",
          "protein_id": "ENSP00000504005.1",
          "transcript_support_level": null,
          "aa_start": 827,
          "aa_end": null,
          "aa_length": 1173,
          "cds_start": 2480,
          "cds_end": null,
          "cds_length": 3522,
          "cdna_start": 2775,
          "cdna_end": null,
          "cdna_length": 3920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2474G>A",
          "hgvs_p": "p.Arg825Gln",
          "transcript": "NM_001388012.1",
          "protein_id": "NP_001374941.1",
          "transcript_support_level": null,
          "aa_start": 825,
          "aa_end": null,
          "aa_length": 1171,
          "cds_start": 2474,
          "cds_end": null,
          "cds_length": 3516,
          "cdna_start": 2631,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "NM_001387989.1",
          "protein_id": "NP_001374918.1",
          "transcript_support_level": null,
          "aa_start": 816,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2447,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 2609,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "NM_001387996.1",
          "protein_id": "NP_001374925.1",
          "transcript_support_level": null,
          "aa_start": 816,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2447,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 2722,
          "cdna_end": null,
          "cdna_length": 3867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "NM_001388011.1",
          "protein_id": "NP_001374940.1",
          "transcript_support_level": null,
          "aa_start": 816,
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          "aa_length": 1162,
          "cds_start": 2447,
          "cds_end": null,
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          "cdna_start": 2604,
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          "mane_select": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
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          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln",
          "transcript": "NM_001388020.1",
          "protein_id": "NP_001374949.1",
          "transcript_support_level": null,
          "aa_start": 816,
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          "aa_length": 1162,
          "cds_start": 2447,
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          "cds_length": 3489,
          "cdna_start": 2766,
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          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": 17,
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          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
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          "hgvs_c": "c.2444G>A",
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          "transcript": "NM_001387988.1",
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          "cds_start": 2444,
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        {
          "aa_ref": "R",
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2444G>A",
          "hgvs_p": "p.Arg815Gln",
          "transcript": "NM_001387993.1",
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        {
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          "strand": false,
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          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2444G>A",
          "hgvs_p": "p.Arg815Gln",
          "transcript": "NM_001387995.1",
          "protein_id": "NP_001374924.1",
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        {
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        {
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2444G>A",
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          "transcript": "NM_001388019.1",
          "protein_id": "NP_001374948.1",
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        {
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2393G>A",
          "hgvs_p": "p.Arg798Gln",
          "transcript": "NM_001387991.1",
          "protein_id": "NP_001374920.1",
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          "gene_symbol": "BAG6",
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        {
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          "gene_symbol": "BAG6",
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          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2363G>A",
          "hgvs_p": "p.Arg788Gln",
          "transcript": "NM_001388008.1",
          "protein_id": "NP_001374937.1",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "n.*1425G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679119.1",
          "protein_id": "ENSP00000503443.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3543,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "n.*14G>A",
          "hgvs_p": null,
          "transcript": "ENST00000470875.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "BAG6",
      "gene_hgnc_id": 13919,
      "dbsnp": "rs765679103",
      "frequency_reference_population": 0.000003719966,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000342279,
      "gnomad_genomes_af": 0.00000657367,
      "gnomad_exomes_ac": 5,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.18201258778572083,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.061,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0891,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.55,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.862,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "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_benign",
      "acmg_criteria": "BP4_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000676615.2",
          "gene_symbol": "BAG6",
          "hgnc_id": 13919,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2447G>A",
          "hgvs_p": "p.Arg816Gln"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}