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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: 11-116892318-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116892318&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 116892318,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001366686.3",
      "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "NM_001366686.3",
          "protein_id": "NP_001353615.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000445177.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366686.3"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000445177.6",
          "protein_id": "ENSP00000391295.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001366686.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000445177.6"
        },
        {
          "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": 24,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000446921.6",
          "protein_id": "ENSP00000390442.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446921.6"
        },
        {
          "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "n.*389+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000415541.5",
          "protein_id": "ENSP00000392761.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000415541.5"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000923916.1",
          "protein_id": "ENSP00000593975.1",
          "transcript_support_level": null,
          "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": "ENST00000923916.1"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000954062.1",
          "protein_id": "ENSP00000624121.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954062.1"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000923914.1",
          "protein_id": "ENSP00000593973.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1364,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4095,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000923914.1"
        },
        {
          "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": 25,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000954064.1",
          "protein_id": "ENSP00000624123.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1337,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4014,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954064.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 24,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "NM_025164.6",
          "protein_id": "NP_079440.3",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1321,
          "cds_start": null,
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          "cds_length": 3966,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_025164.6"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 24,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SIK3",
          "gene_hgnc_id": 29165,
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null,
          "transcript": "ENST00000375300.6",
          "protein_id": "ENSP00000364449.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 1321,
          "cds_start": null,
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          "cdna_start": null,
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          "intron_rank": 6,
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          "gene_symbol": "SIK3",
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          "hgvs_c": "c.865+3935C>G",
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          "transcript": "ENST00000923910.1",
          "protein_id": "ENSP00000593969.1",
          "transcript_support_level": null,
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          "aa_length": 1321,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "consequences": [
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001366686.3",
          "gene_symbol": "SIK3",
          "hgnc_id": 29165,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD,Unknown",
          "hgvs_c": "c.865+3935C>G",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000741400.1",
          "gene_symbol": "ENSG00000296731",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.509-3087G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}