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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: 12-196115-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=196115&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 196115,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_003044.5",
      "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "NM_001122848.3",
          "protein_id": "NP_001116320.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000684302.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001122848.3"
        },
        {
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000684302.1",
          "protein_id": "ENSP00000508194.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001122848.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000684302.1"
        },
        {
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000359674.8",
          "protein_id": "ENSP00000352702.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359674.8"
        },
        {
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000397296.6",
          "protein_id": "ENSP00000380464.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397296.6"
        },
        {
          "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": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000424061.6",
          "protein_id": "ENSP00000399136.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000424061.6"
        },
        {
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000536824.5",
          "protein_id": "ENSP00000444268.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536824.5"
        },
        {
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1374+9C>A",
          "hgvs_p": null,
          "transcript": "ENST00000965396.1",
          "protein_id": "ENSP00000635455.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965396.1"
        },
        {
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "NM_001122847.3",
          "protein_id": "NP_001116319.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001122847.3"
        },
        {
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "SLC6A12",
          "gene_hgnc_id": 11045,
          "hgvs_c": "c.1326+9C>A",
          "hgvs_p": null,
          "transcript": "NM_001206931.2",
          "protein_id": "NP_001193860.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": null,
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          "cds_length": 1845,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001206931.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 17,
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          "gene_symbol": "SLC6A12",
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          "hgvs_c": "c.1326+9C>A",
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          "transcript": "NM_003044.5",
          "protein_id": "NP_003035.3",
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          "cds_start": null,
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        {
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          "gene_symbol": "SLC6A12",
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          "hgvs_c": "c.1326+9C>A",
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        {
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