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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: 12-57096045-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57096045&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 57096045,
      "ref": "C",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_003153.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "NM_003153.5",
          "protein_id": "NP_003144.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000300134.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003153.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000300134.8",
          "protein_id": "ENSP00000300134.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003153.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000300134.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000553533.2",
          "protein_id": "ENSP00000451546.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 865,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2598,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000553533.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000714374.1",
          "protein_id": "ENSP00000519641.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 865,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2598,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000714374.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000861688.1",
          "protein_id": "ENSP00000531747.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000861688.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "NM_001178078.2",
          "protein_id": "NP_001171549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001178078.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "NM_001178079.2",
          "protein_id": "NP_001171550.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001178079.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000553275.2",
          "protein_id": "ENSP00000450732.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000553275.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000553397.6",
          "protein_id": "ENSP00000452203.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000553397.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000553499.6",
          "protein_id": "ENSP00000451074.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000553499.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
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          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000555849.6",
          "protein_id": "ENSP00000452394.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000555849.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000557635.6",
          "protein_id": "ENSP00000450747.2",
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          "aa_start": null,
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          "aa_length": 847,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "STAT6",
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          "hgvs_c": "c.*527G>A",
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          "transcript": "ENST00000714371.1",
          "protein_id": "ENSP00000519638.1",
          "transcript_support_level": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
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          "transcript": "ENST00000714373.1",
          "protein_id": "ENSP00000519640.1",
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          "cds_start": null,
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        },
        {
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          "gene_symbol": "STAT6",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
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          "transcript": "ENST00000861687.1",
          "protein_id": "ENSP00000531746.1",
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        {
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          "exon_rank": 23,
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "STAT6",
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          "transcript": "ENST00000861690.1",
          "protein_id": "ENSP00000531749.1",
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        {
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          "exon_count": 21,
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          "gene_symbol": "STAT6",
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        {
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "STAT6",
          "gene_hgnc_id": 11368,
          "hgvs_c": "c.*527G>A",
          "hgvs_p": null,
          "transcript": "ENST00000920259.1",
          "protein_id": "ENSP00000590318.1",
          "transcript_support_level": null,
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          "aa_length": 847,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "verdict": "Benign",
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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
}