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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: 15-99714829-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99714829&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 99714829,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001319206.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001319206.4",
          "protein_id": "NP_001306135.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5580,
          "mane_select": "ENST00000557942.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "ENST00000557942.6",
          "protein_id": "ENSP00000453095.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5580,
          "mane_select": "NM_001319206.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "ENST00000354410.9",
          "protein_id": "ENSP00000346389.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001400028.1",
          "protein_id": "NP_001386957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001365201.3",
          "protein_id": "NP_001352130.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001365202.3",
          "protein_id": "NP_001352131.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "ENST00000338042.11",
          "protein_id": "ENSP00000337202.8",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "ENST00000705985.1",
          "protein_id": "ENSP00000516195.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001365203.3",
          "protein_id": "NP_001352132.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
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          "cdna_length": 5586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
          "hgvs_p": null,
          "transcript": "NM_001365204.3",
          "protein_id": "NP_001352133.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5504,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MEF2A",
          "gene_hgnc_id": 6993,
          "hgvs_c": "c.*2058G>A",
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          "transcript": "NM_001400029.1",
          "protein_id": "NP_001386958.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 507,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
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          "exon_rank": 12,
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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          "hgvs_c": "c.*2058G>A",
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          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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          "protein_id": "NP_001339545.1",
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        {
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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          "hgvs_c": "c.*2058G>A",
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          "transcript": "NM_001365205.3",
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        },
        {
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          ],
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          "exon_count": 13,
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          "gene_symbol": "MEF2A",
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          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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          "transcript": "NM_001400032.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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        {
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          "gene_symbol": "MEF2A",
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        {
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          "gene_symbol": "MEF2A",
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        },
        {
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            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "MEF2A",
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          "hgvs_c": "c.*2058G>A",
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          "transcript": "NM_001352618.4",
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001319206.4",
          "gene_symbol": "MEF2A",
          "hgnc_id": 6993,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*2058G>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
}