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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: 21-32639026-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32639026&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32639026,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000674351.1",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3797C>T",
          "hgvs_p": "p.Pro1266Leu",
          "transcript": "NM_203446.3",
          "protein_id": "NP_982271.3",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3797,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 3887,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "ENST00000674351.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3797C>T",
          "hgvs_p": "p.Pro1266Leu",
          "transcript": "ENST00000674351.1",
          "protein_id": "ENSP00000501530.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3797,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 3887,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "NM_203446.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3914C>T",
          "hgvs_p": "p.Pro1305Leu",
          "transcript": "ENST00000433931.7",
          "protein_id": "ENSP00000409667.2",
          "transcript_support_level": 1,
          "aa_start": 1305,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 3914,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 3914,
          "cdna_end": null,
          "cdna_length": 7075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3656C>T",
          "hgvs_p": "p.Pro1219Leu",
          "transcript": "ENST00000630077.3",
          "protein_id": "ENSP00000487560.1",
          "transcript_support_level": 1,
          "aa_start": 1219,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 3656,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 3763,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3914C>T",
          "hgvs_p": "p.Pro1305Leu",
          "transcript": "ENST00000382499.7",
          "protein_id": "ENSP00000371939.2",
          "transcript_support_level": 1,
          "aa_start": 1305,
          "aa_end": null,
          "aa_length": 1350,
          "cds_start": 3914,
          "cds_end": null,
          "cds_length": 4053,
          "cdna_start": 3914,
          "cdna_end": null,
          "cdna_length": 7099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3914C>T",
          "hgvs_p": "p.Pro1305Leu",
          "transcript": "NM_003895.4",
          "protein_id": "NP_003886.3",
          "transcript_support_level": null,
          "aa_start": 1305,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 3914,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 4268,
          "cdna_end": null,
          "cdna_length": 7425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3797C>T",
          "hgvs_p": "p.Pro1266Leu",
          "transcript": "ENST00000674308.1",
          "protein_id": "ENSP00000501426.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 3797,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 3887,
          "cdna_end": null,
          "cdna_length": 7044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3656C>T",
          "hgvs_p": "p.Pro1219Leu",
          "transcript": "NM_001160306.2",
          "protein_id": "NP_001153778.1",
          "transcript_support_level": null,
          "aa_start": 1219,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 3656,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 3763,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3797C>T",
          "hgvs_p": "p.Pro1266Leu",
          "transcript": "ENST00000674204.1",
          "protein_id": "ENSP00000501504.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3797,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 3904,
          "cdna_end": null,
          "cdna_length": 7085,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3749C>T",
          "hgvs_p": "p.Pro1250Leu",
          "transcript": "NM_001160302.2",
          "protein_id": "NP_001153774.1",
          "transcript_support_level": null,
          "aa_start": 1250,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 3749,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": 3856,
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          "cdna_length": 7037,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3749C>T",
          "hgvs_p": "p.Pro1250Leu",
          "transcript": "ENST00000357345.7",
          "protein_id": "ENSP00000349903.3",
          "transcript_support_level": 5,
          "aa_start": 1250,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 3749,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": 3874,
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          "cdna_length": 7059,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3656C>T",
          "hgvs_p": "p.Pro1219Leu",
          "transcript": "ENST00000382491.7",
          "protein_id": "ENSP00000371931.4",
          "transcript_support_level": 5,
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          "aa_length": 1264,
          "cds_start": 3656,
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          "cdna_start": 3773,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 6,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.422C>T",
          "hgvs_p": "p.Pro141Leu",
          "transcript": "ENST00000438952.5",
          "protein_id": "ENSP00000388869.1",
          "transcript_support_level": 5,
          "aa_start": 141,
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          "aa_length": 186,
          "cds_start": 422,
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          "cdna_length": 3604,
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.257C>T",
          "hgvs_p": "p.Pro86Leu",
          "transcript": "ENST00000418301.3",
          "protein_id": "ENSP00000387868.1",
          "transcript_support_level": 3,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 130,
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          "cdna_start": 259,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3899C>T",
          "hgvs_p": "p.Pro1300Leu",
          "transcript": "XM_017028495.3",
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          "mane_select": null,
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3875C>T",
          "hgvs_p": "p.Pro1292Leu",
          "transcript": "XM_047441034.1",
          "protein_id": "XP_047296990.1",
          "transcript_support_level": null,
          "aa_start": 1292,
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        },
        {
          "aa_ref": "P",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3866C>T",
          "hgvs_p": "p.Pro1289Leu",
          "transcript": "XM_017028497.3",
          "protein_id": "XP_016883986.1",
          "transcript_support_level": null,
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        {
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
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          "hgvs_p": "p.Pro1279Leu",
          "transcript": "XM_047441035.1",
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        },
        {
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
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          "hgvs_c": "c.3812C>T",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3797C>T",
          "hgvs_p": "p.Pro1266Leu",
          "transcript": "XM_047441037.1",
          "protein_id": "XP_047296993.1",
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          "aa_end": null,
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          "cdna_start": 3797,
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          "cdna_length": 6958,
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          "feature": null
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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