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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: 3-181717360-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=181717360&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 181717360,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000466034.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.349+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000466034.7",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.482-22209A>C",
          "hgvs_p": null,
          "transcript": "ENST00000476964.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.593+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000491282.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1040,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.648+2068A>C",
          "hgvs_p": null,
          "transcript": "ENST00000498731.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.708+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000460739.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.473-22209A>C",
          "hgvs_p": null,
          "transcript": "ENST00000469278.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.391+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000477928.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.309-22209A>C",
          "hgvs_p": null,
          "transcript": "ENST00000485035.4",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.462+2068A>C",
          "hgvs_p": null,
          "transcript": "ENST00000492337.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.782+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000493521.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1239,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.289-73313A>C",
          "hgvs_p": null,
          "transcript": "ENST00000498226.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.355+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000593330.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.394+2068A>C",
          "hgvs_p": null,
          "transcript": "ENST00000593549.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 753,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.286+17477A>C",
          "hgvs_p": null,
          "transcript": "ENST00000595084.3",
          "protein_id": null,
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          "cdna_length": 850,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.286+17477A>C",
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          "transcript": "ENST00000595287.1",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "SOX2-OT",
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          "hgvs_c": "n.661+17477A>C",
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          "transcript": "ENST00000596250.7",
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        },
        {
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.286+17477A>C",
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          "transcript": "ENST00000597651.6",
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        {
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          "strand": true,
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          ],
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          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.745+2068A>C",
          "hgvs_p": null,
          "transcript": "ENST00000597828.5",
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        {
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          "gene_symbol": "SOX2-OT",
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          "hgvs_c": "n.286+17477A>C",
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        },
        {
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          "intron_rank": 1,
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          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.47+17716A>C",
          "hgvs_p": null,
          "transcript": "ENST00000599082.2",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SOX2-OT",
          "gene_hgnc_id": 20209,
          "hgvs_c": "n.394+2068A>C",
          "hgvs_p": null,
          "transcript": "ENST00000600386.6",
          "protein_id": null,
          "transcript_support_level": 5,
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
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