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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: 1-67237570-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67237570&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 67237570,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000347310.10",
      "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": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.1045+768C>A",
          "hgvs_p": null,
          "transcript": "NM_144701.3",
          "protein_id": "NP_653302.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 629,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1890,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2858,
          "mane_select": "ENST00000347310.10",
          "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": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.1045+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000347310.10",
          "protein_id": "ENSP00000321345.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 629,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1890,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2858,
          "mane_select": "NM_144701.3",
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.280+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000425614.3",
          "protein_id": "ENSP00000387640.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 374,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1125,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1295,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.190+17840C>A",
          "hgvs_p": null,
          "transcript": "ENST00000473881.2",
          "protein_id": "ENSP00000486667.1",
          "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": 1507,
          "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": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*506+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000637002.1",
          "protein_id": "ENSP00000490340.2",
          "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": 2208,
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.956-2609C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697164.1",
          "protein_id": "ENSP00000513153.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1800,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.742+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697165.1",
          "protein_id": "ENSP00000513154.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1587,
          "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": 7,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.1045+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697163.1",
          "protein_id": "ENSP00000513152.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1272,
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.956-2609C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697230.1",
          "protein_id": "ENSP00000513197.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1182,
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "c.955+17840C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697154.1",
          "protein_id": "ENSP00000513143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 320,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 963,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1055,
          "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": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*549+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697148.1",
          "protein_id": "ENSP00000513137.1",
          "transcript_support_level": null,
          "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": 1215,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*359+768C>A",
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          "transcript": "ENST00000697149.1",
          "protein_id": "ENSP00000513138.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "mane_select": null,
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          "feature": null
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        {
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          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.1045+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697150.1",
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          "cdna_start": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 9,
          "intron_rank": 7,
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          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.1045+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697151.1",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
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        {
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          "intron_rank": 5,
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          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*269+17840C>A",
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          "transcript": "ENST00000697153.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "strand": true,
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*72+17840C>A",
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          "transcript": "ENST00000697155.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
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          "hgvs_c": "n.1045+768C>A",
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          "gene_symbol": "IL23R",
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        {
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          ],
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          "gene_symbol": "IL23R",
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          "hgvs_c": "n.*36+768C>A",
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          "transcript": "ENST00000697158.1",
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "IL23R",
          "gene_hgnc_id": 19100,
          "hgvs_c": "n.*162+768C>A",
          "hgvs_p": null,
          "transcript": "ENST00000697159.1",
          "protein_id": "ENSP00000513148.1",
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