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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: 21-32666479-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32666479&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32666479,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000674351.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
          "transcript": "NM_203446.3",
          "protein_id": "NP_982271.3",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 1996,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "ENST00000674351.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
          "transcript": "ENST00000674351.1",
          "protein_id": "ENSP00000501530.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 1996,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "NM_203446.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2023G>C",
          "hgvs_p": "p.Val675Leu",
          "transcript": "ENST00000433931.7",
          "protein_id": "ENSP00000409667.2",
          "transcript_support_level": 1,
          "aa_start": 675,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 2023,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 2023,
          "cdna_end": null,
          "cdna_length": 7075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1891G>C",
          "hgvs_p": "p.Val631Leu",
          "transcript": "ENST00000630077.3",
          "protein_id": "ENSP00000487560.1",
          "transcript_support_level": 1,
          "aa_start": 631,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 1891,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 1998,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2023G>C",
          "hgvs_p": "p.Val675Leu",
          "transcript": "ENST00000382499.7",
          "protein_id": "ENSP00000371939.2",
          "transcript_support_level": 1,
          "aa_start": 675,
          "aa_end": null,
          "aa_length": 1350,
          "cds_start": 2023,
          "cds_end": null,
          "cds_length": 4053,
          "cdna_start": 2023,
          "cdna_end": null,
          "cdna_length": 7099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1891G>C",
          "hgvs_p": "p.Val631Leu",
          "transcript": "ENST00000429236.5",
          "protein_id": "ENSP00000413649.1",
          "transcript_support_level": 1,
          "aa_start": 631,
          "aa_end": null,
          "aa_length": 694,
          "cds_start": 1891,
          "cds_end": null,
          "cds_length": 2087,
          "cdna_start": 2016,
          "cdna_end": null,
          "cdna_length": 2212,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2023G>C",
          "hgvs_p": "p.Val675Leu",
          "transcript": "NM_003895.4",
          "protein_id": "NP_003886.3",
          "transcript_support_level": null,
          "aa_start": 675,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 2023,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 2377,
          "cdna_end": null,
          "cdna_length": 7425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
          "transcript": "ENST00000674308.1",
          "protein_id": "ENSP00000501426.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 1996,
          "cdna_end": null,
          "cdna_length": 7044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1891G>C",
          "hgvs_p": "p.Val631Leu",
          "transcript": "NM_001160306.2",
          "protein_id": "NP_001153778.1",
          "transcript_support_level": null,
          "aa_start": 631,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 1891,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 1998,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
          "transcript": "ENST00000674204.1",
          "protein_id": "ENSP00000501504.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 2013,
          "cdna_end": null,
          "cdna_length": 7085,
          "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": 16,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
          "transcript": "NM_001160302.2",
          "protein_id": "NP_001153774.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": 2013,
          "cdna_end": null,
          "cdna_length": 7037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
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          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
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          "hgvs_c": "c.1906G>C",
          "hgvs_p": "p.Val636Leu",
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          "cds_start": 1906,
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          "mane_select": null,
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        {
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          ],
          "exon_rank": 15,
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          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.1891G>C",
          "hgvs_p": "p.Val631Leu",
          "transcript": "ENST00000382491.7",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2008G>C",
          "hgvs_p": "p.Val670Leu",
          "transcript": "XM_017028495.3",
          "protein_id": "XP_016883984.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1607,
          "cds_start": 2008,
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          "cdna_start": 2008,
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        {
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          ],
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          "gene_symbol": "SYNJ1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2023G>C",
          "hgvs_p": "p.Val675Leu",
          "transcript": "XM_017028497.3",
          "protein_id": "XP_016883986.1",
          "transcript_support_level": null,
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        {
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
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          "transcript": "XM_047441035.1",
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        {
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        {
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        },
        {
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.2008G>C",
          "hgvs_p": "p.Val670Leu",
          "transcript": "XM_017028499.3",
          "protein_id": "XP_016883988.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1565,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 4698,
          "cdna_start": 2008,
          "cdna_end": null,
          "cdna_length": 6934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 28,
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