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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: 10-10942760-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=10942760&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 10942760,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001326325.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
          "hgvs_c": "n.687+1423T>C",
          "hgvs_p": null,
          "transcript": "ENST00000428520.7",
          "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": 1577,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
          "hgvs_c": "n.455+1423T>C",
          "hgvs_p": null,
          "transcript": "ENST00000635670.2",
          "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": 1022,
          "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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.146+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326325.2",
          "protein_id": "NP_001313254.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7933,
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326327.2",
          "protein_id": "NP_001313256.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7885,
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+22761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000637215.1",
          "protein_id": "ENSP00000490185.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2724,
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326326.2",
          "protein_id": "NP_001313255.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7867,
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+22761A>G",
          "hgvs_p": null,
          "transcript": "ENST00000636488.1",
          "protein_id": "ENSP00000489955.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3908,
          "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": 17,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+2306A>G",
          "hgvs_p": null,
          "transcript": "NM_001326319.2",
          "protein_id": "NP_001313248.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9318,
          "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326323.2",
          "protein_id": "NP_001313252.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": null,
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          "cdna_length": 8004,
          "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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326321.2",
          "protein_id": "NP_001313250.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9250,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": 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": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+22761A>G",
          "hgvs_p": null,
          "transcript": "NM_001326318.2",
          "protein_id": "NP_001313247.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 490,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 9226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
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        {
          "aa_ref": 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": 17,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+22761A>G",
          "hgvs_p": null,
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          "protein_id": "NP_001313249.1",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+22761A>G",
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          "transcript": "NM_001326324.2",
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        {
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          "gene_symbol": "CELF2",
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          "hgvs_c": "c.-20+22761A>G",
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          "transcript": "NM_001326328.2",
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        {
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          ],
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          "gene_symbol": "CELF2",
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          "gene_symbol": "CELF2",
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          "hgvs_c": "c.-20+22761A>G",
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          "transcript": "NM_001326317.2",
          "protein_id": "NP_001313246.1",
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        {
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          "strand": false,
          "consequences": [
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          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
          "hgvs_c": "n.233+1423T>C",
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          "transcript": "ENST00000441855.2",
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        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
          "hgvs_c": "n.1189+1423T>C",
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          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
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        {
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          ],
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          "exon_count": 6,
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          "intron_rank_end": null,
          "gene_symbol": "LINC00710",
          "gene_hgnc_id": 27386,
          "hgvs_c": "n.656+1423T>C",
          "hgvs_p": null,
          "transcript": "ENST00000618245.5",
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