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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: 14-92732735-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92732735&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 92732735,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000334869.9",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_005606.7",
          "protein_id": "NP_005597.3",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": 220,
          "cdna_end": null,
          "cdna_length": 1980,
          "mane_select": "ENST00000334869.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "ENST00000334869.9",
          "protein_id": "ENSP00000334052.4",
          "transcript_support_level": 1,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": 220,
          "cdna_end": null,
          "cdna_length": 1980,
          "mane_select": "NM_005606.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "ENST00000393218.6",
          "protein_id": "ENSP00000376911.2",
          "transcript_support_level": 1,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": 390,
          "cdna_end": null,
          "cdna_length": 2115,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_001008530.3",
          "protein_id": "NP_001008530.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": 338,
          "cdna_end": null,
          "cdna_length": 2098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_001437394.1",
          "protein_id": "NP_001424323.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": 220,
          "cdna_end": null,
          "cdna_length": 1912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_001363696.2",
          "protein_id": "NP_001350625.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
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          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 338,
          "cdna_end": null,
          "cdna_length": 1927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_001437397.1",
          "protein_id": "NP_001424326.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 52,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 220,
          "cdna_end": null,
          "cdna_length": 1809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LGMN",
          "gene_hgnc_id": 9472,
          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "ENST00000557434.5",
          "protein_id": "ENSP00000452572.1",
          "transcript_support_level": 5,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 52,
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          "cdna_start": 238,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "LGMN",
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          "hgvs_c": "c.52G>A",
          "hgvs_p": "p.Val18Ile",
          "transcript": "NM_001363699.2",
          "protein_id": "NP_001350628.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "LGMN",
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          "transcript": "NM_001437403.1",
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        {
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          "consequences": [
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          ],
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          "hgvs_p": "p.Val18Ile",
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      "acmg_classification": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}