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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: 1-81932860-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=81932860&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 81932860,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001366005.2",
      "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": 24,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "NM_001366006.2",
          "protein_id": "NP_001352935.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1469,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000686636.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366006.2"
        },
        {
          "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": 24,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000686636.1",
          "protein_id": "ENSP00000509478.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1469,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001366006.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686636.1"
        },
        {
          "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": 26,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370725.5",
          "protein_id": "ENSP00000359760.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1474,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370725.5"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370723.5",
          "protein_id": "ENSP00000359758.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370723.5"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370728.5",
          "protein_id": "ENSP00000359763.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1459,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370728.5"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370727.5",
          "protein_id": "ENSP00000359762.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1431,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370727.5"
        },
        {
          "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": 24,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370730.5",
          "protein_id": "ENSP00000359765.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1416,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4251,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370730.5"
        },
        {
          "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": 20,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000319517.10",
          "protein_id": "ENSP00000322270.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1403,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000319517.10"
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000359929.7",
          "protein_id": "ENSP00000353006.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1403,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4212,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000359929.7"
        },
        {
          "aa_ref": null,
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          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370721.5",
          "protein_id": "ENSP00000359756.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 1384,
          "cds_start": null,
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          "cds_length": 4155,
          "cdna_start": null,
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        {
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          "exon_count": 22,
          "intron_rank": 3,
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          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370715.5",
          "protein_id": "ENSP00000359750.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 1177,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "ADGRL2",
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          "cds_start": null,
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        {
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          "transcript": "ENST00000941349.1",
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        {
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          "gene_symbol": "ADGRL2",
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        {
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          "gene_symbol": "ADGRL2",
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          "gene_symbol": "ADGRL2",
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          "transcript": "NM_001366003.2",
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          "intron_rank": 3,
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          "gene_symbol": "ADGRL2",
          "gene_hgnc_id": 18582,
          "hgvs_c": "c.288-3868C>T",
          "hgvs_p": null,
          "transcript": "ENST00000941341.1",
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        {
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      "splice_prediction_selected": "Benign",
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      "phylop100way_prediction": "Benign",
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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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
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  ],
  "message": null
}