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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: 15-27951891-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27951891&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 27951891,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_000275.3",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1844A>T",
          "hgvs_p": "p.His615Leu",
          "transcript": "NM_000275.3",
          "protein_id": "NP_000266.2",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 3143,
          "mane_select": "ENST00000354638.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000275.3"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1844A>T",
          "hgvs_p": "p.His615Leu",
          "transcript": "ENST00000354638.8",
          "protein_id": "ENSP00000346659.3",
          "transcript_support_level": 1,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 3143,
          "mane_select": "NM_000275.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354638.8"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1772A>T",
          "hgvs_p": "p.His591Leu",
          "transcript": "ENST00000353809.9",
          "protein_id": "ENSP00000261276.8",
          "transcript_support_level": 1,
          "aa_start": 591,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1772,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 1882,
          "cdna_end": null,
          "cdna_length": 3068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000353809.9"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1844A>T",
          "hgvs_p": "p.His615Leu",
          "transcript": "ENST00000910120.1",
          "protein_id": "ENSP00000580179.1",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 920,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 2763,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 3389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000910120.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1997A>T",
          "hgvs_p": "p.His666Leu",
          "transcript": "ENST00000943942.1",
          "protein_id": "ENSP00000614001.1",
          "transcript_support_level": null,
          "aa_start": 666,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": 1997,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": 2356,
          "cdna_end": null,
          "cdna_length": 3538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943942.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1844A>T",
          "hgvs_p": "p.His615Leu",
          "transcript": "ENST00000943940.1",
          "protein_id": "ENSP00000613999.1",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": 1996,
          "cdna_end": null,
          "cdna_length": 3224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943940.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1772A>T",
          "hgvs_p": "p.His591Leu",
          "transcript": "NM_001300984.2",
          "protein_id": "NP_001287913.1",
          "transcript_support_level": null,
          "aa_start": 591,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1772,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 1885,
          "cdna_end": null,
          "cdna_length": 3071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001300984.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1772A>T",
          "hgvs_p": "p.His591Leu",
          "transcript": "ENST00000943939.1",
          "protein_id": "ENSP00000613998.1",
          "transcript_support_level": null,
          "aa_start": 591,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1772,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 1843,
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          "cdna_length": 3025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943939.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1844A>T",
          "hgvs_p": "p.His615Leu",
          "transcript": "ENST00000910119.1",
          "protein_id": "ENSP00000580178.1",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 783,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 2352,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 2979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000910119.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "OCA2",
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          "hgvs_c": "c.1772A>T",
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          "transcript": "ENST00000943941.1",
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        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 19,
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          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "OCA2",
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          "hgvs_c": "c.1868A>T",
          "hgvs_p": "p.His623Leu",
          "transcript": "XM_017022255.2",
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          "protein_coding": true,
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          "intron_rank": null,
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          "gene_symbol": "OCA2",
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          "hgvs_c": "c.1844A>T",
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          "transcript": "XM_011521640.3",
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        {
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          "gene_symbol": "OCA2",
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        },
        {
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        {
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          "gene_symbol": "OCA2",
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        {
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        {
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          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
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          "hgvs_p": "p.His577Leu",
          "transcript": "XM_017022260.2",
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        {
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      "custom_annotations": null
    }
  ],
  "message": null
}
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