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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: 9-14747414-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14747414&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 14747414,
      "ref": "A",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000380880.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5859T>G",
          "hgvs_p": "p.Val1953Val",
          "transcript": "NM_001379081.2",
          "protein_id": "NP_001366010.1",
          "transcript_support_level": null,
          "aa_start": 1953,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5859,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": 6641,
          "cdna_end": null,
          "cdna_length": 7566,
          "mane_select": "ENST00000380880.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5859T>G",
          "hgvs_p": "p.Val1953Val",
          "transcript": "ENST00000380880.4",
          "protein_id": "ENSP00000370262.3",
          "transcript_support_level": 5,
          "aa_start": 1953,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5859,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": 6641,
          "cdna_end": null,
          "cdna_length": 7566,
          "mane_select": "NM_001379081.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.1467T>G",
          "hgvs_p": "p.Val489Val",
          "transcript": "ENST00000380894.5",
          "protein_id": "ENSP00000370278.1",
          "transcript_support_level": 1,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 1467,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": 1556,
          "cdna_end": null,
          "cdna_length": 2481,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "n.*425T>G",
          "hgvs_p": null,
          "transcript": "ENST00000380875.7",
          "protein_id": "ENSP00000370257.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "n.*425T>G",
          "hgvs_p": null,
          "transcript": "ENST00000380875.7",
          "protein_id": "ENSP00000370257.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5859T>G",
          "hgvs_p": "p.Val1953Val",
          "transcript": "NM_144966.7",
          "protein_id": "NP_659403.4",
          "transcript_support_level": null,
          "aa_start": 1953,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 5859,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": 6675,
          "cdna_end": null,
          "cdna_length": 7600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.1467T>G",
          "hgvs_p": "p.Val489Val",
          "transcript": "NM_001177704.3",
          "protein_id": "NP_001171175.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 1467,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": 2454,
          "cdna_end": null,
          "cdna_length": 3379,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.1467T>G",
          "hgvs_p": "p.Val489Val",
          "transcript": "NM_001370061.2",
          "protein_id": "NP_001356990.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": 1467,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": 1976,
          "cdna_end": null,
          "cdna_length": 2901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.1317T>G",
          "hgvs_p": "p.Val439Val",
          "transcript": "NM_001370058.2",
          "protein_id": "NP_001356987.1",
          "transcript_support_level": null,
          "aa_start": 439,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 1317,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": 2304,
          "cdna_end": null,
          "cdna_length": 3113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5886T>G",
          "hgvs_p": "p.Val1962Val",
          "transcript": "XM_017014316.3",
          "protein_id": "XP_016869805.1",
          "transcript_support_level": null,
          "aa_start": 1962,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5886,
          "cds_end": null,
          "cds_length": 6567,
          "cdna_start": 6668,
          "cdna_end": null,
          "cdna_length": 7593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
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          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5886T>G",
          "hgvs_p": "p.Val1962Val",
          "transcript": "XM_017014319.3",
          "protein_id": "XP_016869808.1",
          "transcript_support_level": null,
          "aa_start": 1962,
          "aa_end": null,
          "aa_length": 2188,
          "cds_start": 5886,
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          "cds_length": 6567,
          "cdna_start": 6870,
          "cdna_end": null,
          "cdna_length": 7795,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
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          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5886T>G",
          "hgvs_p": "p.Val1962Val",
          "transcript": "XM_017014320.3",
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          "cdna_start": 6797,
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          "mane_select": null,
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          "biotype": null,
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        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 33,
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          "exon_count": 37,
          "intron_rank": null,
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          "gene_symbol": "FREM1",
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          "hgvs_c": "c.5886T>G",
          "hgvs_p": "p.Val1962Val",
          "transcript": "XM_017014321.3",
          "protein_id": "XP_016869810.1",
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        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
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          "intron_rank": null,
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          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5886T>G",
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          "transcript": "XM_017014322.2",
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        {
          "aa_ref": "V",
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          ],
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        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 34,
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          "intron_rank": null,
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          "gene_symbol": "FREM1",
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          "hgvs_c": "c.5886T>G",
          "hgvs_p": "p.Val1962Val",
          "transcript": "XM_047422845.1",
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          "cdna_start": 6966,
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        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": 33,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "FREM1",
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          "hgvs_c": "c.5859T>G",
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          "transcript": "XM_047422846.1",
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        {
          "aa_ref": "V",
          "aa_alt": "V",
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          ],
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          "gene_symbol": "FREM1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FREM1",
          "gene_hgnc_id": 23399,
          "hgvs_c": "c.5736T>G",
          "hgvs_p": "p.Val1912Val",
          "transcript": "XM_017014324.3",
          "protein_id": "XP_016869813.1",
          "transcript_support_level": null,
          "aa_start": 1912,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5736,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 6518,
          "cdna_end": null,
          "cdna_length": 7443,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
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      "acmg_classification": "Likely_benign",
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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
}