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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: 5-112841874-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112841874&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 112841874,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000257430.9",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "NM_000038.6",
          "protein_id": "NP_000029.2",
          "transcript_support_level": null,
          "aa_start": 2094,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6280,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6339,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "ENST00000257430.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "ENST00000257430.9",
          "protein_id": "ENSP00000257430.4",
          "transcript_support_level": 5,
          "aa_start": 2094,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6280,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6339,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "NM_000038.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "ENST00000508376.6",
          "protein_id": "ENSP00000427089.2",
          "transcript_support_level": 1,
          "aa_start": 2094,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6280,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6437,
          "cdna_end": null,
          "cdna_length": 10619,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*5602C>A",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "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": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*5602C>A",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "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": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000258864",
          "gene_hgnc_id": null,
          "hgvs_c": "n.228+12902C>A",
          "hgvs_p": null,
          "transcript": "ENST00000520401.1",
          "protein_id": "ENSP00000454861.1",
          "transcript_support_level": 3,
          "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": 694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6364C>A",
          "hgvs_p": "p.Pro2122Thr",
          "transcript": "NM_001407446.1",
          "protein_id": "NP_001394375.1",
          "transcript_support_level": null,
          "aa_start": 2122,
          "aa_end": null,
          "aa_length": 2871,
          "cds_start": 6364,
          "cds_end": null,
          "cds_length": 8616,
          "cdna_start": 6584,
          "cdna_end": null,
          "cdna_length": 10949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6334C>A",
          "hgvs_p": "p.Pro2112Thr",
          "transcript": "NM_001354896.2",
          "protein_id": "NP_001341825.1",
          "transcript_support_level": null,
          "aa_start": 2112,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6334,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6393,
          "cdna_end": null,
          "cdna_length": 10758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6334C>A",
          "hgvs_p": "p.Pro2112Thr",
          "transcript": "NM_001407447.1",
          "protein_id": "NP_001394376.1",
          "transcript_support_level": null,
          "aa_start": 2112,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6334,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6737,
          "cdna_end": null,
          "cdna_length": 11102,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6334C>A",
          "hgvs_p": "p.Pro2112Thr",
          "transcript": "NM_001407448.1",
          "protein_id": "NP_001394377.1",
          "transcript_support_level": null,
          "aa_start": 2112,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6334,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6504,
          "cdna_end": null,
          "cdna_length": 10869,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6334C>A",
          "hgvs_p": "p.Pro2112Thr",
          "transcript": "NM_001407449.1",
          "protein_id": "NP_001394378.1",
          "transcript_support_level": null,
          "aa_start": 2112,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6334,
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          "cds_length": 8586,
          "cdna_start": 6501,
          "cdna_end": null,
          "cdna_length": 10866,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6334C>A",
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          "transcript": "ENST00000504915.3",
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          "cds_start": 6334,
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          "cdna_start": 6390,
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6310C>A",
          "hgvs_p": "p.Pro2104Thr",
          "transcript": "NM_001354897.2",
          "protein_id": "NP_001341826.1",
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          "aa_length": 2853,
          "cds_start": 6310,
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
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          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "NM_001127510.3",
          "protein_id": "NP_001120982.1",
          "transcript_support_level": null,
          "aa_start": 2094,
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        },
        {
          "aa_ref": "P",
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          "gene_symbol": "APC",
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          "hgvs_c": "c.6280C>A",
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          "transcript": "NM_001354895.2",
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "NM_001407450.1",
          "protein_id": "NP_001394379.1",
          "transcript_support_level": null,
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        {
          "aa_ref": "P",
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          "strand": true,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6280C>A",
          "hgvs_p": "p.Pro2094Thr",
          "transcript": "ENST00000509732.6",
          "protein_id": "ENSP00000426541.2",
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        },
        {
          "aa_ref": "P",
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          "intron_rank": null,
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          "gene_symbol": "APC",
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        {
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          "gene_symbol": "APC",
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        },
        {
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6250C>A",
          "hgvs_p": "p.Pro2084Thr",
          "transcript": "NM_001407452.1",
          "protein_id": "NP_001394381.1",
          "transcript_support_level": null,
          "aa_start": 2084,
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          "aa_length": 2833,
          "cds_start": 6250,
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          "cds_length": 8502,
          "cdna_start": 6653,
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          "cdna_length": 11018,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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      "acmg_by_gene": [
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          "score": 2,
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          "verdict": "Uncertain_significance",
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        {
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          "verdict": "Uncertain_significance",
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          "gene_symbol": "ENSG00000258864",
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          "effects": [
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          "inheritance_mode": "",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}