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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: 12-2688659-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2688659&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 2688659,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000347598.9",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.5997C>G",
          "hgvs_p": "p.Thr1999Thr",
          "transcript": "NM_000719.7",
          "protein_id": "NP_000710.5",
          "transcript_support_level": null,
          "aa_start": 1999,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5997,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 6573,
          "cdna_end": null,
          "cdna_length": 13744,
          "mane_select": "ENST00000399655.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.5997C>G",
          "hgvs_p": "p.Thr1999Thr",
          "transcript": "NM_001167623.2",
          "protein_id": "NP_001161095.1",
          "transcript_support_level": null,
          "aa_start": 1999,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5997,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 6573,
          "cdna_end": null,
          "cdna_length": 13744,
          "mane_select": null,
          "mane_plus": "ENST00000399603.6",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.5997C>G",
          "hgvs_p": "p.Thr1999Thr",
          "transcript": "ENST00000399603.6",
          "protein_id": "ENSP00000382512.1",
          "transcript_support_level": 5,
          "aa_start": 1999,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5997,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 6573,
          "cdna_end": null,
          "cdna_length": 13744,
          "mane_select": null,
          "mane_plus": "NM_001167623.2",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.5997C>G",
          "hgvs_p": "p.Thr1999Thr",
          "transcript": "ENST00000399655.6",
          "protein_id": "ENSP00000382563.1",
          "transcript_support_level": 1,
          "aa_start": 1999,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5997,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 6573,
          "cdna_end": null,
          "cdna_length": 13744,
          "mane_select": "NM_000719.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6336C>G",
          "hgvs_p": "p.Thr2112Thr",
          "transcript": "ENST00000682544.1",
          "protein_id": "ENSP00000507184.1",
          "transcript_support_level": null,
          "aa_start": 2112,
          "aa_end": null,
          "aa_length": 2251,
          "cds_start": 6336,
          "cds_end": null,
          "cds_length": 6756,
          "cdna_start": 6627,
          "cdna_end": null,
          "cdna_length": 7047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6210C>G",
          "hgvs_p": "p.Thr2070Thr",
          "transcript": "ENST00000406454.8",
          "protein_id": "ENSP00000385896.3",
          "transcript_support_level": 5,
          "aa_start": 2070,
          "aa_end": null,
          "aa_length": 2209,
          "cds_start": 6210,
          "cds_end": null,
          "cds_length": 6630,
          "cdna_start": 6786,
          "cdna_end": null,
          "cdna_length": 8166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6177C>G",
          "hgvs_p": "p.Thr2059Thr",
          "transcript": "ENST00000399634.6",
          "protein_id": "ENSP00000382542.2",
          "transcript_support_level": 5,
          "aa_start": 2059,
          "aa_end": null,
          "aa_length": 2198,
          "cds_start": 6177,
          "cds_end": null,
          "cds_length": 6597,
          "cdna_start": 6753,
          "cdna_end": null,
          "cdna_length": 8133,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6162C>G",
          "hgvs_p": "p.Thr2054Thr",
          "transcript": "ENST00000683824.1",
          "protein_id": "ENSP00000507867.1",
          "transcript_support_level": null,
          "aa_start": 2054,
          "aa_end": null,
          "aa_length": 2193,
          "cds_start": 6162,
          "cds_end": null,
          "cds_length": 6582,
          "cdna_start": 6162,
          "cdna_end": null,
          "cdna_length": 6582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6141C>G",
          "hgvs_p": "p.Thr2047Thr",
          "transcript": "ENST00000347598.9",
          "protein_id": "ENSP00000266376.6",
          "transcript_support_level": 1,
          "aa_start": 2047,
          "aa_end": null,
          "aa_length": 2186,
          "cds_start": 6141,
          "cds_end": null,
          "cds_length": 6561,
          "cdna_start": 6717,
          "cdna_end": null,
          "cdna_length": 13888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6120C>G",
          "hgvs_p": "p.Thr2040Thr",
          "transcript": "ENST00000344100.7",
          "protein_id": "ENSP00000341092.3",
          "transcript_support_level": 1,
          "aa_start": 2040,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 6120,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": 6120,
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          "cdna_length": 6634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6102C>G",
          "hgvs_p": "p.Thr2034Thr",
          "transcript": "ENST00000327702.12",
          "protein_id": "ENSP00000329877.7",
          "transcript_support_level": 1,
          "aa_start": 2034,
          "aa_end": null,
          "aa_length": 2173,
          "cds_start": 6102,
          "cds_end": null,
          "cds_length": 6522,
          "cdna_start": 6678,
          "cdna_end": null,
          "cdna_length": 13849,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6102C>G",
          "hgvs_p": "p.Thr2034Thr",
          "transcript": "ENST00000399617.6",
          "protein_id": "ENSP00000382526.1",
          "transcript_support_level": 5,
          "aa_start": 2034,
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          "aa_length": 2173,
          "cds_start": 6102,
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          "cdna_start": 6339,
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          "cdna_length": 7719,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
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          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6087C>G",
          "hgvs_p": "p.Thr2029Thr",
          "transcript": "ENST00000682462.1",
          "protein_id": "ENSP00000507105.1",
          "transcript_support_level": null,
          "aa_start": 2029,
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          "cds_start": 6087,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
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          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6087C>G",
          "hgvs_p": "p.Thr2029Thr",
          "transcript": "ENST00000683781.1",
          "protein_id": "ENSP00000507434.1",
          "transcript_support_level": null,
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          "cds_start": 6087,
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          "cdna_start": 6275,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "T",
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          "canonical": true,
          "protein_coding": true,
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          ],
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          "gene_symbol": "CACNA1C",
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          "hgvs_c": "c.6087C>G",
          "hgvs_p": "p.Thr2029Thr",
          "transcript": "ENST00000683840.1",
          "protein_id": "ENSP00000507612.1",
          "transcript_support_level": null,
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          "cdna_start": 6103,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6087C>G",
          "hgvs_p": "p.Thr2029Thr",
          "transcript": "ENST00000683956.1",
          "protein_id": "ENSP00000506882.1",
          "transcript_support_level": null,
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          "cdna_start": 6103,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
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          "exon_count": 48,
          "intron_rank": null,
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          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6081C>G",
          "hgvs_p": "p.Thr2027Thr",
          "transcript": "ENST00000399638.5",
          "protein_id": "ENSP00000382547.1",
          "transcript_support_level": 1,
          "aa_start": 2027,
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          "cds_start": 6081,
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          "cds_length": 6501,
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        },
        {
          "aa_ref": "T",
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          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
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          "intron_rank": null,
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          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6072C>G",
          "hgvs_p": "p.Thr2024Thr",
          "transcript": "ENST00000335762.10",
          "protein_id": "ENSP00000336982.5",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6057C>G",
          "hgvs_p": "p.Thr2019Thr",
          "transcript": "ENST00000399606.5",
          "protein_id": "ENSP00000382515.1",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6054C>G",
          "hgvs_p": "p.Thr2018Thr",
          "transcript": "ENST00000399621.5",
          "protein_id": "ENSP00000382530.1",
          "transcript_support_level": 1,
          "aa_start": 2018,
          "aa_end": null,
          "aa_length": 2157,
          "cds_start": 6054,
          "cds_end": null,
          "cds_length": 6474,
          "cdna_start": 6054,
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          "cdna_length": 6568,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
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        {
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          "benign_score": 12,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000501371.5",
          "gene_symbol": "ITFG2-AS1",
          "hgnc_id": 53128,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.294+1481G>C",
          "hgvs_p": null
        },
        {
          "score": -10,
          "benign_score": 12,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "NR_045725.1",
          "gene_symbol": "CACNA1C-AS1",
          "hgnc_id": 40119,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.333+1481G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Cardiovascular phenotype,Long QT syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Long QT syndrome|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}