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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: 6-152368991-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152368991&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 152368991,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000367255.10",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9788C>A",
          "hgvs_p": "p.Ala3263Glu",
          "transcript": "NM_182961.4",
          "protein_id": "NP_892006.3",
          "transcript_support_level": null,
          "aa_start": 3263,
          "aa_end": null,
          "aa_length": 8797,
          "cds_start": 9788,
          "cds_end": null,
          "cds_length": 26394,
          "cdna_start": 10353,
          "cdna_end": null,
          "cdna_length": 27708,
          "mane_select": "ENST00000367255.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9788C>A",
          "hgvs_p": "p.Ala3263Glu",
          "transcript": "ENST00000367255.10",
          "protein_id": "ENSP00000356224.5",
          "transcript_support_level": 1,
          "aa_start": 3263,
          "aa_end": null,
          "aa_length": 8797,
          "cds_start": 9788,
          "cds_end": null,
          "cds_length": 26394,
          "cdna_start": 10353,
          "cdna_end": null,
          "cdna_length": 27708,
          "mane_select": "NM_182961.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "ENST00000423061.6",
          "protein_id": "ENSP00000396024.1",
          "transcript_support_level": 1,
          "aa_start": 3270,
          "aa_end": null,
          "aa_length": 8749,
          "cds_start": 9809,
          "cds_end": null,
          "cds_length": 26250,
          "cdna_start": 10285,
          "cdna_end": null,
          "cdna_length": 27475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.1139C>A",
          "hgvs_p": "p.Ala380Glu",
          "transcript": "ENST00000454018.7",
          "protein_id": "ENSP00000390858.4",
          "transcript_support_level": 1,
          "aa_start": 380,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 1139,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": 1139,
          "cdna_end": null,
          "cdna_length": 1549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "n.1337C>A",
          "hgvs_p": null,
          "transcript": "ENST00000471834.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "NM_033071.5",
          "protein_id": "NP_149062.2",
          "transcript_support_level": null,
          "aa_start": 3270,
          "aa_end": null,
          "aa_length": 8749,
          "cds_start": 9809,
          "cds_end": null,
          "cds_length": 26250,
          "cdna_start": 10285,
          "cdna_end": null,
          "cdna_length": 27475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "XM_006715407.2",
          "protein_id": "XP_006715470.1",
          "transcript_support_level": null,
          "aa_start": 3270,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 9809,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": 10285,
          "cdna_end": null,
          "cdna_length": 27766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 62,
          "exon_rank_end": null,
          "exon_count": 149,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "XM_017010608.2",
          "protein_id": "XP_016866097.1",
          "transcript_support_level": null,
          "aa_start": 3270,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 9809,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": 10374,
          "cdna_end": null,
          "cdna_length": 27855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "XM_017010609.2",
          "protein_id": "XP_016866098.1",
          "transcript_support_level": null,
          "aa_start": 3270,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 9809,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": 10206,
          "cdna_end": null,
          "cdna_length": 27687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "XM_011535641.3",
          "protein_id": "XP_011533943.1",
          "transcript_support_level": null,
          "aa_start": 3270,
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          "aa_length": 8845,
          "cds_start": 9809,
          "cds_end": null,
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          "cdna_start": 10285,
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          "mane_select": null,
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        {
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          "consequences": [
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          ],
          "exon_rank": 61,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9809C>A",
          "hgvs_p": "p.Ala3270Glu",
          "transcript": "XM_006715408.3",
          "protein_id": "XP_006715471.1",
          "transcript_support_level": null,
          "aa_start": 3270,
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          "aa_length": 8842,
          "cds_start": 9809,
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          "cdna_start": 10285,
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        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 61,
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          "exon_count": 148,
          "intron_rank": null,
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          "gene_symbol": "SYNE1",
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        {
          "aa_ref": "A",
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          ],
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9788C>A",
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          "transcript": "XM_006715409.2",
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        {
          "aa_ref": "A",
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          "protein_coding": true,
          "strand": false,
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            "missense_variant"
          ],
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          "exon_count": 147,
          "intron_rank": null,
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9788C>A",
          "hgvs_p": "p.Ala3263Glu",
          "transcript": "XM_017010610.2",
          "protein_id": "XP_016866099.1",
          "transcript_support_level": null,
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        {
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          "hgvs_c": "c.9788C>A",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9782C>A",
          "hgvs_p": "p.Ala3261Glu",
          "transcript": "XM_017010611.3",
          "protein_id": "XP_016866100.1",
          "transcript_support_level": null,
          "aa_start": 3261,
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          "cds_start": 9782,
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        {
          "aa_ref": "A",
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          "gene_symbol": "SYNE1",
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          "transcript": "XM_006715410.3",
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        {
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        {
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          "gene_symbol": "SYNE1",
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          "hgvs_c": "c.9758C>A",
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          "transcript": "XM_006715411.2",
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        },
        {
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          "consequences": [
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          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.9758C>A",
          "hgvs_p": "p.Ala3253Glu",
          "transcript": "XM_047418503.1",
          "protein_id": "XP_047274459.1",
          "transcript_support_level": null,
          "aa_start": 3253,
          "aa_end": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 147,
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