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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: 6-31640679-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31640679&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 31640679,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001387994.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "NM_001387994.1",
          "protein_id": "NP_001374923.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3211,
          "cdna_end": null,
          "cdna_length": 3843,
          "mane_select": "ENST00000676615.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "ENST00000676615.2",
          "protein_id": "ENSP00000502941.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3211,
          "cdna_end": null,
          "cdna_length": 3843,
          "mane_select": "NM_001387994.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2852T>G",
          "hgvs_p": "p.Val951Gly",
          "transcript": "ENST00000211379.9",
          "protein_id": "ENSP00000211379.5",
          "transcript_support_level": 1,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2852,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 3147,
          "cdna_end": null,
          "cdna_length": 3779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2852T>G",
          "hgvs_p": "p.Val951Gly",
          "transcript": "ENST00000375976.8",
          "protein_id": "ENSP00000365143.4",
          "transcript_support_level": 1,
          "aa_start": 951,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2852,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 3012,
          "cdna_end": null,
          "cdna_length": 3644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2774T>G",
          "hgvs_p": "p.Val925Gly",
          "transcript": "ENST00000375964.11",
          "protein_id": "ENSP00000365131.6",
          "transcript_support_level": 1,
          "aa_start": 925,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": 2774,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": 3069,
          "cdna_end": null,
          "cdna_length": 3701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2993T>G",
          "hgvs_p": "p.Val998Gly",
          "transcript": "ENST00000676571.1",
          "protein_id": "ENSP00000504005.1",
          "transcript_support_level": null,
          "aa_start": 998,
          "aa_end": null,
          "aa_length": 1173,
          "cds_start": 2993,
          "cds_end": null,
          "cds_length": 3522,
          "cdna_start": 3288,
          "cdna_end": null,
          "cdna_length": 3920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2987T>G",
          "hgvs_p": "p.Val996Gly",
          "transcript": "NM_001388012.1",
          "protein_id": "NP_001374941.1",
          "transcript_support_level": null,
          "aa_start": 996,
          "aa_end": null,
          "aa_length": 1171,
          "cds_start": 2987,
          "cds_end": null,
          "cds_length": 3516,
          "cdna_start": 3144,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "NM_001387989.1",
          "protein_id": "NP_001374918.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3122,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "NM_001387996.1",
          "protein_id": "NP_001374925.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3235,
          "cdna_end": null,
          "cdna_length": 3867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "NM_001388011.1",
          "protein_id": "NP_001374940.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3117,
          "cdna_end": null,
          "cdna_length": 3749,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly",
          "transcript": "NM_001388020.1",
          "protein_id": "NP_001374949.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3279,
          "cdna_end": null,
          "cdna_length": 3911,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
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          "hgvs_c": "c.2957T>G",
          "hgvs_p": "p.Val986Gly",
          "transcript": "NM_001387988.1",
          "protein_id": "NP_001374917.1",
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          "cds_start": 2957,
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          "mane_select": null,
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        },
        {
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          ],
          "exon_rank": 22,
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          "intron_rank": null,
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          "gene_symbol": "BAG6",
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          "hgvs_c": "c.2957T>G",
          "hgvs_p": "p.Val986Gly",
          "transcript": "NM_001387993.1",
          "protein_id": "NP_001374922.1",
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        {
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          "strand": false,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2957T>G",
          "hgvs_p": "p.Val986Gly",
          "transcript": "NM_001387995.1",
          "protein_id": "NP_001374924.1",
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        {
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          "feature": null
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2957T>G",
          "hgvs_p": "p.Val986Gly",
          "transcript": "NM_001388019.1",
          "protein_id": "NP_001374948.1",
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        {
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          "canonical": false,
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
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          "transcript": "NM_001387991.1",
          "protein_id": "NP_001374920.1",
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          "cdna_start": 3157,
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        {
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        {
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          "gene_symbol": "BAG6",
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        },
        {
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          "consequences": [
            "missense_variant"
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          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "c.2876T>G",
          "hgvs_p": "p.Val959Gly",
          "transcript": "NM_001388008.1",
          "protein_id": "NP_001374937.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1134,
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          "cds_length": 3405,
          "cdna_start": 3033,
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          "cdna_length": 3665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
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          "gene_symbol": "BAG6",
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          "transcript": "ENST00000679119.1",
          "protein_id": "ENSP00000503443.1",
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
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          "hgvs_c": "n.*1938T>G",
          "hgvs_p": null,
          "transcript": "ENST00000679119.1",
          "protein_id": "ENSP00000503443.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "BAG6",
          "gene_hgnc_id": 13919,
          "hgvs_c": "n.-140T>G",
          "hgvs_p": null,
          "transcript": "ENST00000464126.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        }
      ],
      "gene_symbol": "BAG6",
      "gene_hgnc_id": 13919,
      "dbsnp": "rs903697326",
      "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": 0.16084301471710205,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.05999999865889549,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.08,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0925,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.37,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.852,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.06,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001387994.1",
          "gene_symbol": "BAG6",
          "hgnc_id": 13919,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2960T>G",
          "hgvs_p": "p.Val987Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}