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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: 10-28614577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28614577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "10",
      "pos": 28614577,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000354911.9",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1448C>T",
          "hgvs_p": "p.Pro483Leu",
          "transcript": "NM_016628.5",
          "protein_id": "NP_057712.2",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 1448,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "ENST00000354911.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1448C>T",
          "hgvs_p": "p.Pro483Leu",
          "transcript": "ENST00000354911.9",
          "protein_id": "ENSP00000346986.4",
          "transcript_support_level": 1,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 1448,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "NM_016628.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1313C>T",
          "hgvs_p": "p.Pro438Leu",
          "transcript": "ENST00000375664.8",
          "protein_id": "ENSP00000364816.3",
          "transcript_support_level": 1,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1922,
          "cdna_end": null,
          "cdna_length": 5924,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.2189C>T",
          "hgvs_p": null,
          "transcript": "ENST00000345541.6",
          "protein_id": null,
          "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": 4526,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*874C>T",
          "hgvs_p": null,
          "transcript": "ENST00000628285.3",
          "protein_id": "ENSP00000486994.2",
          "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": 3513,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*874C>T",
          "hgvs_p": null,
          "transcript": "ENST00000628285.3",
          "protein_id": "ENSP00000486994.2",
          "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": 3513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1436C>T",
          "hgvs_p": "p.Pro479Leu",
          "transcript": "ENST00000700325.1",
          "protein_id": "ENSP00000514952.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 1762,
          "cdna_end": null,
          "cdna_length": 2597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1436C>T",
          "hgvs_p": "p.Pro479Leu",
          "transcript": "ENST00000706612.1",
          "protein_id": "ENSP00000516469.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 1908,
          "cdna_end": null,
          "cdna_length": 5910,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1319C>T",
          "hgvs_p": "p.Pro440Leu",
          "transcript": "ENST00000680735.1",
          "protein_id": "ENSP00000505513.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1319,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": 1920,
          "cdna_end": null,
          "cdna_length": 5922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1313C>T",
          "hgvs_p": "p.Pro438Leu",
          "transcript": "NM_100264.3",
          "protein_id": "NP_567822.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1313,
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          "cdna_start": 1636,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1313C>T",
          "hgvs_p": "p.Pro438Leu",
          "transcript": "ENST00000442148.6",
          "protein_id": "ENSP00000400848.2",
          "transcript_support_level": 5,
          "aa_start": 438,
          "aa_end": null,
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          "cds_start": 1313,
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          "cdna_start": 1552,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1313C>T",
          "hgvs_p": "p.Pro438Leu",
          "transcript": "ENST00000679398.1",
          "protein_id": "ENSP00000506624.1",
          "transcript_support_level": null,
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          "cds_start": 1313,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "WAC",
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          "hgvs_c": "c.1313C>T",
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          "transcript": "ENST00000679428.1",
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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": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1139C>T",
          "hgvs_p": "p.Pro380Leu",
          "transcript": "NM_100486.4",
          "protein_id": "NP_567823.1",
          "transcript_support_level": null,
          "aa_start": 380,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1139C>T",
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          "transcript": "ENST00000347934.8",
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          "biotype": null,
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        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.992C>T",
          "hgvs_p": "p.Pro331Leu",
          "transcript": "ENST00000375646.5",
          "protein_id": "ENSP00000364797.1",
          "transcript_support_level": 5,
          "aa_start": 331,
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          "cds_start": 992,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1694C>T",
          "hgvs_p": "p.Pro565Leu",
          "transcript": "XM_047425309.1",
          "protein_id": "XP_047281265.1",
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        },
        {
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          "protein_coding": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1586C>T",
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        },
        {
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          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "WAC",
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          "hgvs_c": "c.1586C>T",
          "hgvs_p": "p.Pro529Leu",
          "transcript": "XM_047425311.1",
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          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1466C>T",
          "hgvs_p": "p.Pro489Leu",
          "transcript": "XM_047425312.1",
          "protein_id": "XP_047281268.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 653,
          "cds_start": 1466,
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          "cds_length": 1962,
          "cdna_start": 1928,
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          "cdna_length": 5930,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1448C>T",
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          "hgvs_p": "p.Pro483Leu"
        }
      ],
      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}