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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: 15-27926169-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27926169&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 27926169,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000354638.8",
      "consequences": [
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.2037G>T",
          "hgvs_p": "p.Trp679Cys",
          "transcript": "NM_000275.3",
          "protein_id": "NP_000266.2",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 2150,
          "cdna_end": null,
          "cdna_length": 3143,
          "mane_select": "ENST00000354638.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.2037G>T",
          "hgvs_p": "p.Trp679Cys",
          "transcript": "ENST00000354638.8",
          "protein_id": "ENSP00000346659.3",
          "transcript_support_level": 1,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 2150,
          "cdna_end": null,
          "cdna_length": 3143,
          "mane_select": "NM_000275.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1965G>T",
          "hgvs_p": "p.Trp655Cys",
          "transcript": "ENST00000353809.9",
          "protein_id": "ENSP00000261276.8",
          "transcript_support_level": 1,
          "aa_start": 655,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1965,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 2075,
          "cdna_end": null,
          "cdna_length": 3068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1965G>T",
          "hgvs_p": "p.Trp655Cys",
          "transcript": "NM_001300984.2",
          "protein_id": "NP_001287913.1",
          "transcript_support_level": null,
          "aa_start": 655,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1965,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 2078,
          "cdna_end": null,
          "cdna_length": 3071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.2061G>T",
          "hgvs_p": "p.Trp687Cys",
          "transcript": "XM_017022255.2",
          "protein_id": "XP_016877744.1",
          "transcript_support_level": null,
          "aa_start": 687,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 2061,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": 3403,
          "cdna_end": null,
          "cdna_length": 4438,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_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.2037G>T",
          "hgvs_p": "p.Trp679Cys",
          "transcript": "XM_011521640.3",
          "protein_id": "XP_011519942.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": 2150,
          "cdna_end": null,
          "cdna_length": 3185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.2061G>T",
          "hgvs_p": "p.Trp687Cys",
          "transcript": "XM_017022256.2",
          "protein_id": "XP_016877745.1",
          "transcript_support_level": null,
          "aa_start": 687,
          "aa_end": null,
          "aa_length": 846,
          "cds_start": 2061,
          "cds_end": null,
          "cds_length": 2541,
          "cdna_start": 4355,
          "cdna_end": null,
          "cdna_length": 5348,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_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.1989G>T",
          "hgvs_p": "p.Trp663Cys",
          "transcript": "XM_017022257.2",
          "protein_id": "XP_016877746.1",
          "transcript_support_level": null,
          "aa_start": 663,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": 1989,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": 4284,
          "cdna_end": null,
          "cdna_length": 5319,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "W",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.2061G>T",
          "hgvs_p": "p.Trp687Cys",
          "transcript": "XM_017022258.2",
          "protein_id": "XP_016877747.1",
          "transcript_support_level": null,
          "aa_start": 687,
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          "cds_start": 2061,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": 4358,
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          "mane_select": null,
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        },
        {
          "aa_ref": "W",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "OCA2",
          "gene_hgnc_id": 8101,
          "hgvs_c": "c.1965G>T",
          "hgvs_p": "p.Trp655Cys",
          "transcript": "XM_047432605.1",
          "protein_id": "XP_047288561.1",
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          "aa_length": 828,
          "cds_start": 1965,
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        {
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          "gene_symbol": "OCA2",
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          "hgvs_c": "c.2037G>T",
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          "cds_start": 2037,
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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",
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        {
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        {
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          "gene_symbol": "OCA2",
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          "hgvs_c": "c.1899G>T",
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          "transcript": "XM_047432611.1",
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        {
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          ],
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      "clinvar_classification": "",
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  "message": null
}