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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: 11-61890454-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61890454&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61890454,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_021727.5",
      "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "NM_021727.5",
          "protein_id": "NP_068373.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000278829.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_021727.5"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000278829.7",
          "protein_id": "ENSP00000278829.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_021727.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000278829.7"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000969795.1",
          "protein_id": "ENSP00000639854.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969795.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000969794.1",
          "protein_id": "ENSP00000639853.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969794.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000873461.1",
          "protein_id": "ENSP00000543520.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873461.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000969798.1",
          "protein_id": "ENSP00000639857.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969798.1"
        },
        {
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000969790.1",
          "protein_id": "ENSP00000639849.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969790.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000873460.1",
          "protein_id": "ENSP00000543519.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873460.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000937848.1",
          "protein_id": "ENSP00000607907.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937848.1"
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000873462.1",
          "protein_id": "ENSP00000543521.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 437,
          "cds_start": null,
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          "cds_length": 1314,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
          "hgvs_p": null,
          "transcript": "ENST00000873459.1",
          "protein_id": "ENSP00000543518.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
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          "cds_length": 1299,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
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          "hgvs_c": "c.213+715T>C",
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        {
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          "hgvs_c": "c.213+715T>C",
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        {
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          "gene_symbol": "FADS3",
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          "hgvs_c": "c.213+715T>C",
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        {
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        {
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          "gene_symbol": "FADS3",
          "gene_hgnc_id": 3576,
          "hgvs_c": "c.213+715T>C",
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        {
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          "gene_symbol": "FADS3",
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        {
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          "gene_symbol": "FADS3",
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          "hgvs_c": "c.213+715T>C",
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          "transcript": "ENST00000969793.1",
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          "biotype": "protein_coding",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}