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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: 2-177265343-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177265343&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 177265343,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000464747.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.184-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699346.1",
          "protein_id": "ENSP00000514321.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2954,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000586532.6",
          "protein_id": "ENSP00000464920.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2536,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699265.1",
          "protein_id": "ENSP00000514246.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699301.1",
          "protein_id": "ENSP00000514281.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3061,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699303.1",
          "protein_id": "ENSP00000514283.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699304.1",
          "protein_id": "ENSP00000514284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
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          "cdna_length": 2522,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699305.1",
          "protein_id": "ENSP00000514285.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699331.1",
          "protein_id": "ENSP00000514305.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2907,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
          "hgvs_p": null,
          "transcript": "ENST00000699345.1",
          "protein_id": "ENSP00000514320.1",
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          "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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          "consequences": [
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          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NFE2L2",
          "gene_hgnc_id": 7782,
          "hgvs_c": "c.43-31072G>A",
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          "transcript": "ENST00000699348.1",
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          "cds_start": -4,
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          "gene_symbol": "NFE2L2",
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          "intron_rank": 7,
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          "gene_symbol": "NFE2L2",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}