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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: 2-173188491-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=173188491&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 173188491,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_016653.3",
      "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": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "NM_016653.3",
          "protein_id": "NP_057737.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000375213.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016653.3"
        },
        {
          "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": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000375213.8",
          "protein_id": "ENSP00000364361.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016653.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000375213.8"
        },
        {
          "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": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000409176.6",
          "protein_id": "ENSP00000387259.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409176.6"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000338983.7",
          "protein_id": "ENSP00000340257.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000338983.7"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000539448.5",
          "protein_id": "ENSP00000439414.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000539448.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "n.584+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000476618.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000476618.5"
        },
        {
          "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": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000893700.1",
          "protein_id": "ENSP00000563759.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893700.1"
        },
        {
          "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": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000893705.1",
          "protein_id": "ENSP00000563764.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893705.1"
        },
        {
          "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": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000893706.1",
          "protein_id": "ENSP00000563765.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 800,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2403,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000893706.1"
        },
        {
          "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": 20,
          "intron_rank": 5,
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          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000965866.1",
          "protein_id": "ENSP00000635925.1",
          "transcript_support_level": null,
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          "aa_length": 800,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "strand": true,
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          "gene_symbol": "MAP3K20",
          "gene_hgnc_id": 17797,
          "hgvs_c": "c.415+868A>G",
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          "protein_id": "ENSP00000635926.1",
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          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "gene_symbol": "MAP3K20",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "MAP3K20",
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          "hgvs_c": "c.415+868A>G",
          "hgvs_p": null,
          "transcript": "XM_005246640.3",
          "protein_id": "XP_005246697.1",
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      "acmg_classification": "Benign",
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          "gene_symbol": "MAP3K20-AS1",
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          "effects": [
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          "inheritance_mode": "",
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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
}