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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: 16-19067503-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19067503&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 19067503,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000567047.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.192+78C>T",
          "hgvs_p": null,
          "transcript": "ENST00000567047.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "pseudogene",
          "feature": "ENST00000567047.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.91+48C>T",
          "hgvs_p": null,
          "transcript": "ENST00000568971.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "pseudogene",
          "feature": "ENST00000568971.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.91+48C>T",
          "hgvs_p": null,
          "transcript": "ENST00000571934.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "pseudogene",
          "feature": "ENST00000571934.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.357-4608C>T",
          "hgvs_p": null,
          "transcript": "ENST00000774567.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000774567.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.250+78C>T",
          "hgvs_p": null,
          "transcript": "ENST00000774570.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000774570.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.239+78C>T",
          "hgvs_p": null,
          "transcript": "ENST00000774571.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000774571.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.276+48C>T",
          "hgvs_p": null,
          "transcript": "ENST00000774572.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000774572.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.266+48C>T",
          "hgvs_p": null,
          "transcript": "ENST00000774573.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000774573.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.111+78C>T",
          "hgvs_p": null,
          "transcript": "NR_119379.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "NR_119379.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.141+48C>T",
          "hgvs_p": null,
          "transcript": "NR_119380.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "NR_119380.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "COQ7-DT",
          "gene_hgnc_id": 55362,
          "hgvs_c": "n.111+78C>T",
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          "transcript": "NR_119381.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_119381.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-162G>A",
          "hgvs_p": null,
          "transcript": "NM_016138.5",
          "protein_id": "NP_057222.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 217,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": "ENST00000321998.10",
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          "biotype": "protein_coding",
          "feature": "NM_016138.5"
        },
        {
          "aa_ref": null,
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          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-162G>A",
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          "transcript": "ENST00000321998.10",
          "protein_id": "ENSP00000322316.5",
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": "NM_016138.5",
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
            "upstream_gene_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-162G>A",
          "hgvs_p": null,
          "transcript": "ENST00000568985.5",
          "protein_id": "ENSP00000456734.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 217,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000568985.5"
        },
        {
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          ],
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          "exon_count": 5,
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          "gene_symbol": "COQ7",
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-369G>A",
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          "transcript": "NM_001370494.1",
          "protein_id": "NP_001357423.1",
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        },
        {
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          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
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          "hgvs_p": null,
          "transcript": "ENST00000937633.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "COQ7",
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          "hgvs_c": "c.-162G>A",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "COQ7",
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          "hgvs_c": "c.-420G>A",
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          "transcript": "ENST00000566110.5",
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          "biotype": "protein_coding",
          "feature": "ENST00000566110.5"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
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          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-162G>A",
          "hgvs_p": null,
          "transcript": "XM_047433494.1",
          "protein_id": "XP_047289450.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047433494.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COQ7",
          "gene_hgnc_id": 2244,
          "hgvs_c": "c.-162G>A",
          "hgvs_p": null,
          "transcript": "XM_047433495.1",
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      "computational_score_selected": -0.6600000262260437,
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      "bayesdelnoaf_score": -0.66,
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      "phylop100way_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_016138.5",
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          "inheritance_mode": "AR",
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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
}