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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: 11-72002987-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72002987&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 72002987,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_006185.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "NM_006185.4",
          "protein_id": "NP_006176.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7198,
          "mane_select": "ENST00000393695.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006185.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000393695.8",
          "protein_id": "ENSP00000377298.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7198,
          "mane_select": "NM_006185.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393695.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000351960.10",
          "protein_id": "ENSP00000260051.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000351960.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000541584.5",
          "protein_id": "ENSP00000440954.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 963,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000541584.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "c.*1342G>A",
          "hgvs_p": null,
          "transcript": "ENST00000497194.6",
          "protein_id": "ENSP00000434717.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 199,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 600,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000497194.6"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "IL18BP",
          "gene_hgnc_id": 5987,
          "hgvs_c": "n.*908+183G>A",
          "hgvs_p": null,
          "transcript": "ENST00000343898.9",
          "protein_id": "ENSP00000343309.5",
          "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": 1720,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000343898.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000967521.1",
          "protein_id": "ENSP00000637580.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7403,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000967521.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000967525.1",
          "protein_id": "ENSP00000637584.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2120,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6363,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000967525.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000863446.1",
          "protein_id": "ENSP00000533505.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863446.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000863448.1",
          "protein_id": "ENSP00000533507.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": null,
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          "cds_length": 6348,
          "cdna_start": null,
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          "cdna_length": 7199,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000863448.1"
        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_rank": 26,
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          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000863451.1",
          "protein_id": "ENSP00000533510.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 7481,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
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          "hgvs_c": "c.*540C>T",
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          "transcript": "ENST00000967523.1",
          "protein_id": "ENSP00000637582.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
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          "transcript": "ENST00000967524.1",
          "protein_id": "ENSP00000637583.1",
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
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          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000967527.1",
          "protein_id": "ENSP00000637586.1",
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        {
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
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          "hgvs_c": "c.*540C>T",
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          "transcript": "ENST00000863447.1",
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "NUMA1",
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          "hgvs_c": "c.*540C>T",
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          "transcript": "ENST00000921276.1",
          "protein_id": "ENSP00000591335.1",
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        {
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          "exon_count": 27,
          "intron_rank": null,
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          "hgvs_c": "c.*540C>T",
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        {
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        {
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null,
          "transcript": "ENST00000620566.4",
          "protein_id": "ENSP00000478624.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 2101,
          "cds_start": null,
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        {
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      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_006185.4",
          "gene_symbol": "NUMA1",
          "hgnc_id": 8059,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*540C>T",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000497194.6",
          "gene_symbol": "IL18BP",
          "hgnc_id": 5987,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.*1342G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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