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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: 11-47410177-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47410177&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47410177,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000362021.9",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001128225.3",
          "protein_id": "NP_001121697.2",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2330,
          "mane_select": "ENST00000362021.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": true,
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000362021.9",
          "protein_id": "ENSP00000354689.4",
          "transcript_support_level": 1,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2330,
          "mane_select": "NM_001128225.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000354884.8",
          "protein_id": "ENSP00000346956.4",
          "transcript_support_level": 1,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 144,
          "cdna_end": null,
          "cdna_length": 2289,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441271.1",
          "protein_id": "NP_001428200.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 243,
          "cdna_end": null,
          "cdna_length": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_152264.5",
          "protein_id": "NP_689477.3",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 185,
          "cdna_end": null,
          "cdna_length": 2330,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441272.1",
          "protein_id": "NP_001428201.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441273.1",
          "protein_id": "NP_001428202.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001330245.2",
          "protein_id": "NP_001317174.2",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2305,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000533076.5",
          "protein_id": "ENSP00000434290.1",
          "transcript_support_level": 2,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 493,
          "cdna_end": null,
          "cdna_length": 1805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000524928.1",
          "protein_id": "ENSP00000437186.1",
          "transcript_support_level": 2,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 321,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 966,
          "cdna_start": 93,
          "cdna_end": null,
          "cdna_length": 3553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441274.1",
          "protein_id": "NP_001428203.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": 164,
          "cdna_end": null,
          "cdna_length": 2111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441275.1",
          "protein_id": "NP_001428204.1",
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          "cds_start": 83,
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          "cdna_start": 164,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000531865.5",
          "protein_id": "ENSP00000434684.1",
          "transcript_support_level": 5,
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          "cds_start": 83,
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          "cdna_start": 126,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000526614.5",
          "protein_id": "ENSP00000432499.1",
          "transcript_support_level": 5,
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          "aa_end": null,
          "aa_length": 247,
          "cds_start": 83,
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          "cdna_start": 164,
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          "cdna_length": 827,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
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          ],
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          "gene_symbol": "SLC39A13",
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          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "NM_001441276.1",
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          "cdna_start": 164,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000531419.5",
          "protein_id": "ENSP00000432302.1",
          "transcript_support_level": 5,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 217,
          "cds_start": 83,
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          "cds_length": 654,
          "cdna_start": 149,
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          "cdna_length": 785,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000531974.5",
          "protein_id": "ENSP00000435845.1",
          "transcript_support_level": 2,
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          "cdna_start": 170,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "ENST00000527091.1",
          "protein_id": "ENSP00000435076.1",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.128A>T",
          "hgvs_p": "p.Glu43Val",
          "transcript": "XM_011520466.2",
          "protein_id": "XP_011518768.1",
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          "cdna_start": 166,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
          "hgvs_p": "p.Glu28Val",
          "transcript": "XM_011520467.2",
          "protein_id": "XP_011518769.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 349,
          "cdna_end": null,
          "cdna_length": 2515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "V",
          "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": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.83A>T",
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}