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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: 11-61430161-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61430161&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61430161,
      "ref": "A",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_017841.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "NM_017841.4",
          "protein_id": "NP_060311.1",
          "transcript_support_level": null,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000301761.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017841.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000301761.7",
          "protein_id": "ENSP00000301761.3",
          "transcript_support_level": 1,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_017841.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000301761.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000541135.5",
          "protein_id": "ENSP00000443130.1",
          "transcript_support_level": 4,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000541135.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000713963.1",
          "protein_id": "ENSP00000519256.1",
          "transcript_support_level": null,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000713963.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000964796.1",
          "protein_id": "ENSP00000634855.1",
          "transcript_support_level": null,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964796.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000713960.1",
          "protein_id": "ENSP00000519253.1",
          "transcript_support_level": null,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 468,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000713960.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000537782.5",
          "protein_id": "ENSP00000469951.1",
          "transcript_support_level": 4,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 133,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537782.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000543265.1",
          "protein_id": "ENSP00000443660.1",
          "transcript_support_level": 5,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 88,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000543265.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000857230.1",
          "protein_id": "ENSP00000527289.1",
          "transcript_support_level": null,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 79,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 240,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857230.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.15A>C",
          "hgvs_p": "p.Thr5Thr",
          "transcript": "ENST00000542074.1",
          "protein_id": "ENSP00000469670.1",
          "transcript_support_level": 2,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 28,
          "cds_start": 15,
          "cds_end": null,
          "cds_length": 87,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000542074.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.-80A>C",
          "hgvs_p": null,
          "transcript": "ENST00000713964.1",
          "protein_id": "ENSP00000519257.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 120,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 363,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000713964.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.-50A>C",
          "hgvs_p": null,
          "transcript": "ENST00000713959.1",
          "protein_id": "ENSP00000519252.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 70,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000713959.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000359614.9",
          "protein_id": "ENSP00000352630.5",
          "transcript_support_level": 3,
          "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": "ENST00000359614.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.38A>C",
          "hgvs_p": null,
          "transcript": "ENST00000534878.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "retained_intron",
          "feature": "ENST00000534878.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000536250.1",
          "protein_id": "ENSP00000471120.1",
          "transcript_support_level": 3,
          "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": "ENST00000536250.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.41A>C",
          "hgvs_p": null,
          "transcript": "ENST00000536670.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "retained_intron",
          "feature": "ENST00000536670.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000538594.5",
          "protein_id": "ENSP00000440939.1",
          "transcript_support_level": 4,
          "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": "ENST00000538594.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000542794.5",
          "protein_id": "ENSP00000439983.1",
          "transcript_support_level": 2,
          "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": "ENST00000542794.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.-22A>C",
          "hgvs_p": null,
          "transcript": "ENST00000543044.2",
          "protein_id": "ENSP00000440219.1",
          "transcript_support_level": 3,
          "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": "ENST00000543044.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.15A>C",
          "hgvs_p": null,
          "transcript": "ENST00000544801.5",
          "protein_id": "ENSP00000442581.1",
          "transcript_support_level": 5,
          "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": "ENST00000544801.5"
        },
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            "BP6_Moderate"
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          "verdict": "Likely_benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
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      "custom_annotations": null
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  "message": null
}