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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: 7-114602621-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114602621&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 114602621,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000350908.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
          "hgvs_p": null,
          "transcript": "NM_014491.4",
          "protein_id": "NP_055306.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6543,
          "mane_select": "ENST00000350908.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000350908.9",
          "protein_id": "ENSP00000265436.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6543,
          "mane_select": "NM_014491.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.334-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000408937.7",
          "protein_id": "ENSP00000386200.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6443,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.331-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000390668.3",
          "protein_id": "ENSP00000375084.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000360232.8",
          "protein_id": "ENSP00000353367.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1412,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000378237.7",
          "protein_id": "ENSP00000367482.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2187,
          "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "n.*53-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000393489.8",
          "protein_id": "ENSP00000377129.4",
          "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": 2285,
          "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": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "n.*377-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000440349.5",
          "protein_id": "ENSP00000395552.1",
          "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": 1509,
          "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": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "n.485-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000459666.5",
          "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": 927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.334-25919C>A",
          "hgvs_p": null,
          "transcript": "ENST00000703616.1",
          "protein_id": "ENSP00000515400.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
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          "cdna_length": 4587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.334-25919C>A",
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          "transcript": "NM_148898.4",
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          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 740,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6618,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 3,
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          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
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          "transcript": "NM_148900.4",
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          "cds_start": -4,
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        {
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          "gene_symbol": "FOXP2",
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          "hgvs_c": "c.259-25919C>A",
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        {
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          "gene_symbol": "FOXP2",
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          "hgvs_c": "c.259-25919C>A",
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          "gene_symbol": "FOXP2",
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          "gene_symbol": "FOXP2",
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          "intron_rank": 5,
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          "gene_symbol": "FOXP2",
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        {
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          "gene_symbol": "FOXP2",
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          "mane_select": null,
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        {
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          ],
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          "exon_count": 18,
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          "intron_rank_end": null,
          "gene_symbol": "FOXP2",
          "gene_hgnc_id": 13875,
          "hgvs_c": "c.259-25919C>A",
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          "transcript": "ENST00000634411.1",
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}