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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: 11-62881135-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62881135&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 62881135,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000338663.12",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "NM_001013251.3",
          "protein_id": "NP_001013269.1",
          "transcript_support_level": null,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 240,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": "ENST00000338663.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000338663.12",
          "protein_id": "ENSP00000340815.7",
          "transcript_support_level": 1,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 240,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": "NM_001013251.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Glu139Lys",
          "transcript": "ENST00000377890.6",
          "protein_id": "ENSP00000367122.2",
          "transcript_support_level": 1,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": 583,
          "cdna_end": null,
          "cdna_length": 2161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.229G>A",
          "hgvs_p": "p.Glu77Lys",
          "transcript": "ENST00000377889.6",
          "protein_id": "ENSP00000367121.2",
          "transcript_support_level": 1,
          "aa_start": 77,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 229,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 355,
          "cdna_end": null,
          "cdna_length": 1993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.508G>A",
          "hgvs_p": "p.Glu170Lys",
          "transcript": "ENST00000538084.2",
          "protein_id": "ENSP00000440001.2",
          "transcript_support_level": 3,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": 508,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": 669,
          "cdna_end": null,
          "cdna_length": 2334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.487G>A",
          "hgvs_p": "p.Glu163Lys",
          "transcript": "ENST00000681569.1",
          "protein_id": "ENSP00000506498.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 487,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": 648,
          "cdna_end": null,
          "cdna_length": 2313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.418G>A",
          "hgvs_p": "p.Glu140Lys",
          "transcript": "NM_001012662.3",
          "protein_id": "NP_001012680.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": 579,
          "cdna_end": null,
          "cdna_length": 2224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.418G>A",
          "hgvs_p": "p.Glu140Lys",
          "transcript": "ENST00000377891.6",
          "protein_id": "ENSP00000367123.2",
          "transcript_support_level": 2,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": 577,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Glu139Lys",
          "transcript": "NM_002394.6",
          "protein_id": "NP_002385.3",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": 576,
          "cdna_end": null,
          "cdna_length": 2221,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.394G>A",
          "hgvs_p": "p.Glu132Lys",
          "transcript": "ENST00000681467.1",
          "protein_id": "ENSP00000506217.1",
          "transcript_support_level": null,
          "aa_start": 132,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": 394,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": 562,
          "cdna_end": null,
          "cdna_length": 2227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.373G>A",
          "hgvs_p": "p.Glu125Lys",
          "transcript": "ENST00000680725.1",
          "protein_id": "ENSP00000505585.1",
          "transcript_support_level": null,
          "aa_start": 125,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 373,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": 532,
          "cdna_end": null,
          "cdna_length": 2197,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.322G>A",
          "hgvs_p": "p.Glu108Lys",
          "transcript": "ENST00000680729.1",
          "protein_id": "ENSP00000505639.1",
          "transcript_support_level": null,
          "aa_start": 108,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 322,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": 588,
          "cdna_end": null,
          "cdna_length": 2265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.322G>A",
          "hgvs_p": "p.Glu108Lys",
          "transcript": "ENST00000535296.5",
          "protein_id": "ENSP00000444236.1",
          "transcript_support_level": 5,
          "aa_start": 108,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": 322,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": 424,
          "cdna_end": null,
          "cdna_length": 2084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.229G>A",
          "hgvs_p": "p.Glu77Lys",
          "transcript": "NM_001012664.3",
          "protein_id": "NP_001012682.1",
          "transcript_support_level": null,
          "aa_start": 77,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 229,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 390,
          "cdna_end": null,
          "cdna_length": 2035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000681232.1",
          "protein_id": "ENSP00000506460.1",
          "transcript_support_level": null,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": 240,
          "cdna_end": null,
          "cdna_length": 1917,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000544377.2",
          "protein_id": "ENSP00000442135.2",
          "transcript_support_level": 4,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 376,
          "cdna_end": null,
          "cdna_length": 2041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000680631.1",
          "protein_id": "ENSP00000506006.1",
          "transcript_support_level": null,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 225,
          "cdna_end": null,
          "cdna_length": 1890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000681657.1",
          "protein_id": "ENSP00000505110.1",
          "transcript_support_level": null,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 240,
          "cdna_end": null,
          "cdna_length": 1905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000680297.1",
          "protein_id": "ENSP00000506230.1",
          "transcript_support_level": null,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": 273,
          "cdna_end": null,
          "cdna_length": 1975,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.112G>A",
          "hgvs_p": "p.Glu38Lys",
          "transcript": "ENST00000539458.1",
          "protein_id": "ENSP00000438032.1",
          "transcript_support_level": 5,
          "aa_start": 38,
          "aa_end": null,
          "aa_length": 144,
          "cds_start": 112,
          "cds_end": null,
          "cds_length": 437,
          "cdna_start": 240,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
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      "dbsnp": "rs772779788",
      "frequency_reference_population": 6.887033e-7,
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      "gnomad_exomes_af": 6.88703e-7,
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      "gnomad_exomes_homalt": 0,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": 0.6735844016075134,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
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      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Uncertain_significance",
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      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.26,
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      "spliceai_max_score": 0,
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      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
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          "verdict": "Uncertain_significance",
          "transcript": "ENST00000338663.12",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}