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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: 3-100928905-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100928905&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 100928905,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001375547.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "NM_001375547.2",
          "protein_id": "NP_001362476.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1786,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000471714.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375547.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "ENST00000471714.6",
          "protein_id": "ENSP00000420524.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1786,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001375547.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000471714.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "ENST00000284322.10",
          "protein_id": "ENSP00000284322.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000284322.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "ENST00000495063.6",
          "protein_id": "ENSP00000433993.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000495063.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.101-2424G>T",
          "hgvs_p": null,
          "transcript": "ENST00000710654.1",
          "protein_id": "ENSP00000518403.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1793,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5382,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000710654.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "NM_001375550.1",
          "protein_id": "NP_001362479.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1772,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375550.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "NM_001375549.2",
          "protein_id": "NP_001362478.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1770,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5313,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375549.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 65,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "NM_001349329.2",
          "protein_id": "NP_001336258.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5148,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349329.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 63,
          "intron_rank": 1,
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          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
          "hgvs_p": null,
          "transcript": "ENST00000882230.1",
          "protein_id": "ENSP00000552289.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "ABI3BP",
          "gene_hgnc_id": 17265,
          "hgvs_c": "c.80-2424G>T",
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          "transcript": "ENST00000882203.1",
          "protein_id": "ENSP00000552262.1",
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          "cds_start": null,
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        {
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