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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: 11-27693337-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27693337&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 27693337,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000356660.9",
      "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+6827A>G",
          "hgvs_p": null,
          "transcript": "NM_001709.5",
          "protein_id": "NP_001700.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3985,
          "mane_select": "ENST00000356660.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+6827A>G",
          "hgvs_p": null,
          "transcript": "ENST00000356660.9",
          "protein_id": "ENSP00000349084.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3985,
          "mane_select": "NM_001709.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-59+7634A>G",
          "hgvs_p": null,
          "transcript": "ENST00000438929.5",
          "protein_id": "ENSP00000414303.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.24+6045A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395986.6",
          "protein_id": "ENSP00000379309.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 262,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 789,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.3+28075A>G",
          "hgvs_p": null,
          "transcript": "ENST00000314915.6",
          "protein_id": "ENSP00000320002.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 255,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 768,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+27092A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395978.7",
          "protein_id": "ENSP00000379302.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3988,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+27009A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395981.7",
          "protein_id": "ENSP00000379305.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+7634A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395983.7",
          "protein_id": "ENSP00000379307.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-129+6827A>G",
          "hgvs_p": null,
          "transcript": "ENST00000418212.5",
          "protein_id": "ENSP00000400502.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 247,
          "cds_start": -4,
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          "cds_length": 744,
          "cdna_start": null,
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          "cdna_length": 4125,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.-22+27307A>G",
          "hgvs_p": null,
          "transcript": "ENST00000525950.5",
          "protein_id": "ENSP00000432035.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3829,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          "exon_count": 2,
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          "gene_symbol": "BDNF",
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          "hgvs_c": "c.-22+7339A>G",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "BDNF",
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          "hgvs_c": "c.-22+26174A>G",
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          "gene_symbol": "BDNF",
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          "hgvs_c": "c.-22+6146A>G",
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        {
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          "hgvs_c": "c.-22+6845A>G",
          "hgvs_p": null,
          "transcript": "ENST00000533246.5",
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        {
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          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
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          "gene_symbol": "BDNF-AS",
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          "transcript": "ENST00000500662.7",
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        {
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          "intron_rank": 5,
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          "gene_symbol": "BDNF-AS",
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          "hgvs_c": "n.591-4141T>C",
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          "transcript": "ENST00000502161.7",
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        {
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          "consequences": [
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          "exon_count": 4,
          "intron_rank": 1,
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          "gene_symbol": "BDNF",
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          "hgvs_c": "n.-59+7634A>G",
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          "transcript": "NM_001143810.2",
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        {
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          ],
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          "gene_symbol": "BDNF",
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          "hgvs_c": "c.66+7634A>G",
          "hgvs_p": null,
          "transcript": "NM_001143809.2",
          "protein_id": "NP_001137281.1",
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}