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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: 5-69413682-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69413682&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 69413682,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000354868.10",
      "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "NM_133338.3",
          "protein_id": "NP_579916.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3054,
          "mane_select": "ENST00000354868.10",
          "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000354868.10",
          "protein_id": "ENSP00000346938.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3054,
          "mane_select": "NM_133338.3",
          "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": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1785-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000380774.7",
          "protein_id": "ENSP00000370151.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2117,
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000305138.8",
          "protein_id": "ENSP00000303134.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3164,
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000345306.10",
          "protein_id": "ENSP00000311227.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2789,
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000354312.7",
          "protein_id": "ENSP00000346271.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
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          "cdna_length": 2943,
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000361732.6",
          "protein_id": "ENSP00000355226.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3002,
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1752-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000616683.4",
          "protein_id": "ENSP00000482775.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3057,
          "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": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1494-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000282891.10",
          "protein_id": "ENSP00000282891.6",
          "transcript_support_level": 1,
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          "aa_end": null,
          "aa_length": 584,
          "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,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "RAD17",
          "gene_hgnc_id": 9807,
          "hgvs_c": "c.1257-349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000358030.6",
          "protein_id": "ENSP00000350725.2",
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          "aa_start": null,
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        {
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          "gene_symbol": "RAD17",
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          "canonical": false,
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          "intron_rank": 17,
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          "gene_symbol": "RAD17",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
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  "message": null
}