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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: 16-67660341-AC-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67660341&ref=AC&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 67660341,
      "ref": "AC",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000695641.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.422delG",
          "hgvs_p": null,
          "transcript": "ENST00000602860.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.419delG",
          "hgvs_p": null,
          "transcript": "ENST00000695641.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.419delG",
          "hgvs_p": null,
          "transcript": "ENST00000695649.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000219251.13",
          "protein_id": "ENSP00000219251.8",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000602382.6",
          "protein_id": "ENSP00000473313.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1688,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "NM_001082486.2",
          "protein_id": "NP_001075955.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1511,
          "mane_select": "ENST00000620761.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000620761.6",
          "protein_id": "ENSP00000478084.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1511,
          "mane_select": "NM_001082486.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695659.1",
          "protein_id": "ENSP00000512089.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "NM_022914.3",
          "protein_id": "NP_075065.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695648.1",
          "protein_id": "ENSP00000512081.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1359,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695734.1",
          "protein_id": "ENSP00000512127.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1528,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695694.1",
          "protein_id": "ENSP00000512105.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 443,
          "cds_start": -4,
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          "cds_length": 1332,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000602320.1",
          "protein_id": "ENSP00000473679.2",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "NM_001410884.1",
          "protein_id": "NP_001397813.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1424,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695697.1",
          "protein_id": "ENSP00000512106.1",
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        {
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          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "intron_rank": null,
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          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695658.1",
          "protein_id": "ENSP00000512088.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 1200,
          "cdna_start": null,
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          "cdna_length": 1313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695733.1",
          "protein_id": "ENSP00000512126.1",
          "transcript_support_level": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": 918,
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          "cdna_length": 1090,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "c.-122delG",
          "hgvs_p": null,
          "transcript": "ENST00000695732.1",
          "protein_id": "ENSP00000512125.1",
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          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.-78delG",
          "hgvs_p": null,
          "transcript": "ENST00000602423.1",
          "protein_id": null,
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.-97delG",
          "hgvs_p": null,
          "transcript": "ENST00000602519.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 1388,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACD",
          "gene_hgnc_id": 25070,
          "hgvs_c": "n.-71delG",
          "hgvs_p": null,
          "transcript": "ENST00000602622.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
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          "cdna_start": null,
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          "cdna_length": 2526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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      "clinvar_submissions_summary": "LP:1 US:1 O:1",
      "phenotype_combined": "Dyskeratosis congenita, autosomal dominant 6|not provided",
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}