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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: 10-112980986-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112980986&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 112980986,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001367943.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.450+16362G>C",
          "hgvs_p": null,
          "transcript": "NM_001367943.1",
          "protein_id": "NP_001354872.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4076,
          "mane_select": "ENST00000355995.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.450+16362G>C",
          "hgvs_p": null,
          "transcript": "ENST00000355995.9",
          "protein_id": "ENSP00000348274.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4076,
          "mane_select": "NM_001367943.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.450+16362G>C",
          "hgvs_p": null,
          "transcript": "ENST00000627217.3",
          "protein_id": "ENSP00000486891.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000369397.8",
          "protein_id": "ENSP00000358404.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000629706.2",
          "protein_id": "ENSP00000487507.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 584,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1755,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1755,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000355717.9",
          "protein_id": "ENSP00000347949.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.450+16362G>C",
          "hgvs_p": null,
          "transcript": "ENST00000538897.5",
          "protein_id": "ENSP00000446172.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000545257.6",
          "protein_id": "ENSP00000440547.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000352065.10",
          "protein_id": "ENSP00000344823.5",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 459,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
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          "cdna_length": 1553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000369395.6",
          "protein_id": "ENSP00000358402.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1541,
          "mane_select": null,
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        {
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          "canonical": false,
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TCF7L2",
          "gene_hgnc_id": 11641,
          "hgvs_c": "c.381+29379G>C",
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          "transcript": "ENST00000534894.5",
          "protein_id": "ENSP00000443626.2",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 408,
          "cds_start": -4,
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          "cds_length": 1227,
          "cdna_start": null,
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          "cdna_length": 3778,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 14,
          "intron_rank": 4,
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          "gene_symbol": "TCF7L2",
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          "hgvs_c": "c.450+16362G>C",
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          "transcript": "NM_001146274.2",
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          "gene_symbol": "TCF7L2",
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          "protein_id": "NP_110383.2",
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          "gene_symbol": "TCF7L2",
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          "transcript": "NM_001146285.2",
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        {
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          "gene_symbol": "TCF7L2",
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          "gene_symbol": "TCF7L2",
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          "transcript": "NM_001146283.2",
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          "biotype": null,
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        },
        {
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          "exon_count": 15,
          "intron_rank": 3,
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          "hgvs_c": "c.381+29379G>C",
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      "gene_symbol": "TCF7L2",
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      "computational_source_selected": "BayesDel_noAF",
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
          "transcript": "NM_001367943.1",
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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
}