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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: 2-208350046-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208350046&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 208350046,
      "ref": "A",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000264380.9",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "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>T",
          "hgvs_p": "p.Thr1799Thr",
          "transcript": "NM_015040.4",
          "protein_id": "NP_055855.2",
          "transcript_support_level": null,
          "aa_start": 1799,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5397,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5567,
          "cdna_end": null,
          "cdna_length": 9908,
          "mane_select": "ENST00000264380.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "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>T",
          "hgvs_p": "p.Thr1799Thr",
          "transcript": "ENST00000264380.9",
          "protein_id": "ENSP00000264380.4",
          "transcript_support_level": 1,
          "aa_start": 1799,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5397,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5567,
          "cdna_end": null,
          "cdna_length": 9908,
          "mane_select": "NM_015040.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5433A>T",
          "hgvs_p": "p.Thr1811Thr",
          "transcript": "XM_011510778.4",
          "protein_id": "XP_011509080.1",
          "transcript_support_level": null,
          "aa_start": 1811,
          "aa_end": null,
          "aa_length": 2110,
          "cds_start": 5433,
          "cds_end": null,
          "cds_length": 6333,
          "cdna_start": 5603,
          "cdna_end": null,
          "cdna_length": 9944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5433A>T",
          "hgvs_p": "p.Thr1811Thr",
          "transcript": "XM_011510779.3",
          "protein_id": "XP_011509081.1",
          "transcript_support_level": null,
          "aa_start": 1811,
          "aa_end": null,
          "aa_length": 2110,
          "cds_start": 5433,
          "cds_end": null,
          "cds_length": 6333,
          "cdna_start": 5660,
          "cdna_end": null,
          "cdna_length": 10001,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5430A>T",
          "hgvs_p": "p.Thr1810Thr",
          "transcript": "XM_011510780.3",
          "protein_id": "XP_011509082.1",
          "transcript_support_level": null,
          "aa_start": 1810,
          "aa_end": null,
          "aa_length": 2109,
          "cds_start": 5430,
          "cds_end": null,
          "cds_length": 6330,
          "cdna_start": 5600,
          "cdna_end": null,
          "cdna_length": 9941,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5415A>T",
          "hgvs_p": "p.Thr1805Thr",
          "transcript": "XM_011510781.4",
          "protein_id": "XP_011509083.1",
          "transcript_support_level": null,
          "aa_start": 1805,
          "aa_end": null,
          "aa_length": 2104,
          "cds_start": 5415,
          "cds_end": null,
          "cds_length": 6315,
          "cdna_start": 5585,
          "cdna_end": null,
          "cdna_length": 9926,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "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>T",
          "hgvs_p": "p.Thr1799Thr",
          "transcript": "XM_047443667.1",
          "protein_id": "XP_047299623.1",
          "transcript_support_level": null,
          "aa_start": 1799,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5397,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5624,
          "cdna_end": null,
          "cdna_length": 9965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5379A>T",
          "hgvs_p": "p.Thr1793Thr",
          "transcript": "XM_017003568.2",
          "protein_id": "XP_016859057.1",
          "transcript_support_level": null,
          "aa_start": 1793,
          "aa_end": null,
          "aa_length": 2092,
          "cds_start": 5379,
          "cds_end": null,
          "cds_length": 6279,
          "cdna_start": 5549,
          "cdna_end": null,
          "cdna_length": 9890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5268A>T",
          "hgvs_p": "p.Thr1756Thr",
          "transcript": "XM_011510782.4",
          "protein_id": "XP_011509084.1",
          "transcript_support_level": null,
          "aa_start": 1756,
          "aa_end": null,
          "aa_length": 2055,
          "cds_start": 5268,
          "cds_end": null,
          "cds_length": 6168,
          "cdna_start": 5438,
          "cdna_end": null,
          "cdna_length": 9779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5265A>T",
          "hgvs_p": "p.Thr1755Thr",
          "transcript": "XM_011510783.4",
          "protein_id": "XP_011509085.1",
          "transcript_support_level": null,
          "aa_start": 1755,
          "aa_end": null,
          "aa_length": 2054,
          "cds_start": 5265,
          "cds_end": null,
          "cds_length": 6165,
          "cdna_start": 5435,
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          "cdna_length": 9776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5262A>T",
          "hgvs_p": "p.Thr1754Thr",
          "transcript": "XM_011510784.3",
          "protein_id": "XP_011509086.1",
          "transcript_support_level": null,
          "aa_start": 1754,
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          "aa_length": 2053,
          "cds_start": 5262,
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          "cds_length": 6162,
          "cdna_start": 5432,
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          "cdna_length": 9773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
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          "gene_symbol": "PIKFYVE",
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          "hgvs_c": "c.5247A>T",
          "hgvs_p": "p.Thr1749Thr",
          "transcript": "XM_011510785.4",
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          "transcript_support_level": null,
          "aa_start": 1749,
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          "cds_start": 5247,
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        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
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          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5232A>T",
          "hgvs_p": "p.Thr1744Thr",
          "transcript": "XM_047443670.1",
          "protein_id": "XP_047299626.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5229A>T",
          "hgvs_p": "p.Thr1743Thr",
          "transcript": "XM_047443671.1",
          "protein_id": "XP_047299627.1",
          "transcript_support_level": null,
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        {
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          "transcript": "XM_047443672.1",
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          "feature": null
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 35,
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          "exon_count": 41,
          "intron_rank": null,
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          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5214A>T",
          "hgvs_p": "p.Thr1738Thr",
          "transcript": "XM_047443673.1",
          "protein_id": "XP_047299629.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PIKFYVE",
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          "hgvs_c": "c.5211A>T",
          "hgvs_p": "p.Thr1737Thr",
          "transcript": "XM_017003569.2",
          "protein_id": "XP_016859058.1",
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        {
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          "intron_rank": null,
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        {
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          "feature": null
        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
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          "exon_count": 40,
          "intron_rank": null,
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          "gene_symbol": "PIKFYVE",
          "gene_hgnc_id": 23785,
          "hgvs_c": "c.5106A>T",
          "hgvs_p": "p.Thr1702Thr",
          "transcript": "XM_011510788.2",
          "protein_id": "XP_011509090.1",
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          "cds_start": 5106,
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}