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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: 3-113611133-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113611133&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 113611133,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000264852.9",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "NM_017699.3",
          "protein_id": "NP_060169.2",
          "transcript_support_level": null,
          "aa_start": 616,
          "aa_end": null,
          "aa_length": 827,
          "cds_start": 1846,
          "cds_end": null,
          "cds_length": 2484,
          "cdna_start": 2313,
          "cdna_end": null,
          "cdna_length": 4818,
          "mane_select": "ENST00000264852.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "ENST00000264852.9",
          "protein_id": "ENSP00000264852.4",
          "transcript_support_level": 2,
          "aa_start": 616,
          "aa_end": null,
          "aa_length": 827,
          "cds_start": 1846,
          "cds_end": null,
          "cds_length": 2484,
          "cdna_start": 2313,
          "cdna_end": null,
          "cdna_length": 4818,
          "mane_select": "NM_017699.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "ENST00000393830.5",
          "protein_id": "ENSP00000377416.4",
          "transcript_support_level": 1,
          "aa_start": 616,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": 1846,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": 1885,
          "cdna_end": null,
          "cdna_length": 4544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "NM_001322294.2",
          "protein_id": "NP_001309223.1",
          "transcript_support_level": null,
          "aa_start": 616,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": 1846,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": 2313,
          "cdna_end": null,
          "cdna_length": 4836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "NM_001308350.2",
          "protein_id": "NP_001295279.1",
          "transcript_support_level": null,
          "aa_start": 616,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": 1846,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": 2313,
          "cdna_end": null,
          "cdna_length": 4833,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1762G>C",
          "hgvs_p": "p.Val588Leu",
          "transcript": "NM_001322295.2",
          "protein_id": "NP_001309224.1",
          "transcript_support_level": null,
          "aa_start": 588,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1762,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 2229,
          "cdna_end": null,
          "cdna_length": 4749,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1660G>C",
          "hgvs_p": "p.Val554Leu",
          "transcript": "NM_001322296.2",
          "protein_id": "NP_001309225.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": 2127,
          "cdna_end": null,
          "cdna_length": 4647,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1393G>C",
          "hgvs_p": "p.Val465Leu",
          "transcript": "NM_001322297.2",
          "protein_id": "NP_001309226.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 1393,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": 2191,
          "cdna_end": null,
          "cdna_length": 4711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1303G>C",
          "hgvs_p": "p.Val435Leu",
          "transcript": "NM_001322298.2",
          "protein_id": "NP_001309227.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": 1303,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": 2290,
          "cdna_end": null,
          "cdna_length": 4810,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1105G>C",
          "hgvs_p": "p.Val369Leu",
          "transcript": "NM_001322299.2",
          "protein_id": "NP_001309228.1",
          "transcript_support_level": null,
          "aa_start": 369,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": 1105,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": 2332,
          "cdna_end": null,
          "cdna_length": 4837,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.565G>C",
          "hgvs_p": "p.Val189Leu",
          "transcript": "NM_001322300.2",
          "protein_id": "NP_001309229.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 565,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 2210,
          "cdna_end": null,
          "cdna_length": 4730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "XM_011512939.4",
          "protein_id": "XP_011511241.1",
          "transcript_support_level": null,
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          "cdna_start": 2313,
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          "exon_rank": 18,
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          "intron_rank": null,
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          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1846G>C",
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          "transcript": "XM_047448376.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "c.1762G>C",
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        {
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        {
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "c.1846G>C",
          "hgvs_p": "p.Val616Leu",
          "transcript": "XM_011512941.4",
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        {
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        {
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        {
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1660G>C",
          "hgvs_p": "p.Val554Leu",
          "transcript": "XM_047448382.1",
          "protein_id": "XP_047304338.1",
          "transcript_support_level": null,
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          "aa_length": 765,
          "cds_start": 1660,
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          "cdna_start": 2127,
          "cdna_end": null,
          "cdna_length": 4632,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
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          "exon_count": 23,
          "intron_rank": null,
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