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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: 2-208350862-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208350862&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 208350862,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000264380.9",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5526A>G",
          "hgvs_p": "p.Glu1842Glu",
          "transcript": "NM_015040.4",
          "protein_id": "NP_055855.2",
          "transcript_support_level": null,
          "aa_start": 1842,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5526,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5696,
          "cdna_end": null,
          "cdna_length": 9908,
          "mane_select": "ENST00000264380.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5526A>G",
          "hgvs_p": "p.Glu1842Glu",
          "transcript": "ENST00000264380.9",
          "protein_id": "ENSP00000264380.4",
          "transcript_support_level": 1,
          "aa_start": 1842,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5526,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5696,
          "cdna_end": null,
          "cdna_length": 9908,
          "mane_select": "NM_015040.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5562A>G",
          "hgvs_p": "p.Glu1854Glu",
          "transcript": "XM_011510778.4",
          "protein_id": "XP_011509080.1",
          "transcript_support_level": null,
          "aa_start": 1854,
          "aa_end": null,
          "aa_length": 2110,
          "cds_start": 5562,
          "cds_end": null,
          "cds_length": 6333,
          "cdna_start": 5732,
          "cdna_end": null,
          "cdna_length": 9944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5562A>G",
          "hgvs_p": "p.Glu1854Glu",
          "transcript": "XM_011510779.3",
          "protein_id": "XP_011509081.1",
          "transcript_support_level": null,
          "aa_start": 1854,
          "aa_end": null,
          "aa_length": 2110,
          "cds_start": 5562,
          "cds_end": null,
          "cds_length": 6333,
          "cdna_start": 5789,
          "cdna_end": null,
          "cdna_length": 10001,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5559A>G",
          "hgvs_p": "p.Glu1853Glu",
          "transcript": "XM_011510780.3",
          "protein_id": "XP_011509082.1",
          "transcript_support_level": null,
          "aa_start": 1853,
          "aa_end": null,
          "aa_length": 2109,
          "cds_start": 5559,
          "cds_end": null,
          "cds_length": 6330,
          "cdna_start": 5729,
          "cdna_end": null,
          "cdna_length": 9941,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5544A>G",
          "hgvs_p": "p.Glu1848Glu",
          "transcript": "XM_011510781.4",
          "protein_id": "XP_011509083.1",
          "transcript_support_level": null,
          "aa_start": 1848,
          "aa_end": null,
          "aa_length": 2104,
          "cds_start": 5544,
          "cds_end": null,
          "cds_length": 6315,
          "cdna_start": 5714,
          "cdna_end": null,
          "cdna_length": 9926,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5526A>G",
          "hgvs_p": "p.Glu1842Glu",
          "transcript": "XM_047443667.1",
          "protein_id": "XP_047299623.1",
          "transcript_support_level": null,
          "aa_start": 1842,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5526,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5753,
          "cdna_end": null,
          "cdna_length": 9965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5508A>G",
          "hgvs_p": "p.Glu1836Glu",
          "transcript": "XM_017003568.2",
          "protein_id": "XP_016859057.1",
          "transcript_support_level": null,
          "aa_start": 1836,
          "aa_end": null,
          "aa_length": 2092,
          "cds_start": 5508,
          "cds_end": null,
          "cds_length": 6279,
          "cdna_start": 5678,
          "cdna_end": null,
          "cdna_length": 9890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5397A>G",
          "hgvs_p": "p.Glu1799Glu",
          "transcript": "XM_011510782.4",
          "protein_id": "XP_011509084.1",
          "transcript_support_level": null,
          "aa_start": 1799,
          "aa_end": null,
          "aa_length": 2055,
          "cds_start": 5397,
          "cds_end": null,
          "cds_length": 6168,
          "cdna_start": 5567,
          "cdna_end": null,
          "cdna_length": 9779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5394A>G",
          "hgvs_p": "p.Glu1798Glu",
          "transcript": "XM_011510783.4",
          "protein_id": "XP_011509085.1",
          "transcript_support_level": null,
          "aa_start": 1798,
          "aa_end": null,
          "aa_length": 2054,
          "cds_start": 5394,
          "cds_end": null,
          "cds_length": 6165,
          "cdna_start": 5564,
          "cdna_end": null,
          "cdna_length": 9776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5391A>G",
          "hgvs_p": "p.Glu1797Glu",
          "transcript": "XM_011510784.3",
          "protein_id": "XP_011509086.1",
          "transcript_support_level": null,
          "aa_start": 1797,
          "aa_end": null,
          "aa_length": 2053,
          "cds_start": 5391,
          "cds_end": null,
          "cds_length": 6162,
          "cdna_start": 5561,
          "cdna_end": null,
          "cdna_length": 9773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5376A>G",
          "hgvs_p": "p.Glu1792Glu",
          "transcript": "XM_011510785.4",
          "protein_id": "XP_011509087.1",
          "transcript_support_level": null,
          "aa_start": 1792,
          "aa_end": null,
          "aa_length": 2048,
          "cds_start": 5376,
          "cds_end": null,
          "cds_length": 6147,
          "cdna_start": 5546,
          "cdna_end": null,
          "cdna_length": 9758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5361A>G",
          "hgvs_p": "p.Glu1787Glu",
          "transcript": "XM_047443670.1",
          "protein_id": "XP_047299626.1",
          "transcript_support_level": null,
          "aa_start": 1787,
          "aa_end": null,
          "aa_length": 2043,
          "cds_start": 5361,
          "cds_end": null,
          "cds_length": 6132,
          "cdna_start": 5531,
          "cdna_end": null,
          "cdna_length": 9743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5358A>G",
          "hgvs_p": "p.Glu1786Glu",
          "transcript": "XM_047443671.1",
          "protein_id": "XP_047299627.1",
          "transcript_support_level": null,
          "aa_start": 1786,
          "aa_end": null,
          "aa_length": 2042,
          "cds_start": 5358,
          "cds_end": null,
          "cds_length": 6129,
          "cdna_start": 5528,
          "cdna_end": null,
          "cdna_length": 9740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5358A>G",
          "hgvs_p": "p.Glu1786Glu",
          "transcript": "XM_047443672.1",
          "protein_id": "XP_047299628.1",
          "transcript_support_level": null,
          "aa_start": 1786,
          "aa_end": null,
          "aa_length": 2042,
          "cds_start": 5358,
          "cds_end": null,
          "cds_length": 6129,
          "cdna_start": 5585,
          "cdna_end": null,
          "cdna_length": 9797,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5343A>G",
          "hgvs_p": "p.Glu1781Glu",
          "transcript": "XM_047443673.1",
          "protein_id": "XP_047299629.1",
          "transcript_support_level": null,
          "aa_start": 1781,
          "aa_end": null,
          "aa_length": 2037,
          "cds_start": 5343,
          "cds_end": null,
          "cds_length": 6114,
          "cdna_start": 5513,
          "cdna_end": null,
          "cdna_length": 9725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5340A>G",
          "hgvs_p": "p.Glu1780Glu",
          "transcript": "XM_017003569.2",
          "protein_id": "XP_016859058.1",
          "transcript_support_level": null,
          "aa_start": 1780,
          "aa_end": null,
          "aa_length": 2036,
          "cds_start": 5340,
          "cds_end": null,
          "cds_length": 6111,
          "cdna_start": 5510,
          "cdna_end": null,
          "cdna_length": 9722,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5271A>G",
          "hgvs_p": "p.Glu1757Glu",
          "transcript": "XM_011510786.4",
          "protein_id": "XP_011509088.1",
          "transcript_support_level": null,
          "aa_start": 1757,
          "aa_end": null,
          "aa_length": 2013,
          "cds_start": 5271,
          "cds_end": null,
          "cds_length": 6042,
          "cdna_start": 5441,
          "cdna_end": null,
          "cdna_length": 9653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5268A>G",
          "hgvs_p": "p.Glu1756Glu",
          "transcript": "XM_011510787.2",
          "protein_id": "XP_011509089.1",
          "transcript_support_level": null,
          "aa_start": 1756,
          "aa_end": null,
          "aa_length": 2012,
          "cds_start": 5268,
          "cds_end": null,
          "cds_length": 6039,
          "cdna_start": 5438,
          "cdna_end": null,
          "cdna_length": 9650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5235A>G",
          "hgvs_p": "p.Glu1745Glu",
          "transcript": "XM_011510788.2",
          "protein_id": "XP_011509090.1",
          "transcript_support_level": null,
          "aa_start": 1745,
          "aa_end": null,
          "aa_length": 2001,
          "cds_start": 5235,
          "cds_end": null,
          "cds_length": 6006,
          "cdna_start": 5405,
          "cdna_end": null,
          "cdna_length": 9617,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
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  "message": null
}