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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: 6-32352376-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32352376&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 32352376,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000533191.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2616C>G",
          "hgvs_p": null,
          "transcript": "NM_001286474.2",
          "protein_id": "NP_001273403.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "ENST00000533191.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000533191.6",
          "protein_id": "ENSP00000431199.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "NM_001286474.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.239-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000442822.6",
          "protein_id": "ENSP00000411164.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2547C>G",
          "hgvs_p": null,
          "transcript": "NM_006781.5",
          "protein_id": "NP_006772.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2547C>G",
          "hgvs_p": null,
          "transcript": "ENST00000447241.6",
          "protein_id": "ENSP00000415517.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000375015.8",
          "protein_id": "ENSP00000364155.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 562,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1689,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.239-2616C>G",
          "hgvs_p": null,
          "transcript": "NM_001286475.2",
          "protein_id": "NP_001273404.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.239-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000527965.5",
          "protein_id": "ENSP00000435103.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2076,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.101-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000698834.1",
          "protein_id": "ENSP00000513970.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 835,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.272-2616C>G",
          "hgvs_p": null,
          "transcript": "ENST00000532023.5",
          "protein_id": "ENSP00000432814.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 131,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 397,
          "cdna_start": null,
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          "cdna_length": 563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
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          "gene_symbol": "TSBP1",
          "gene_hgnc_id": 13922,
          "hgvs_c": "c.260-2547C>G",
          "hgvs_p": null,
          "transcript": "ENST00000534588.1",
          "protein_id": "ENSP00000432566.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 124,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1-AS1",
          "gene_hgnc_id": 39756,
          "hgvs_c": "n.109-13404G>C",
          "hgvs_p": null,
          "transcript": "ENST00000642577.1",
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        {
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          "strand": true,
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          "exon_count": 4,
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          "gene_symbol": "TSBP1-AS1",
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          "hgvs_c": "n.65-13404G>C",
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        {
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          "gene_symbol": "TSBP1-AS1",
          "gene_hgnc_id": 39756,
          "hgvs_c": "n.88-37838G>C",
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          "mane_select": null,
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        {
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          "gene_symbol": "TSBP1-AS1",
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        {
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          "gene_symbol": "TSBP1-AS1",
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          "hgvs_c": "n.52-13404G>C",
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          "transcript": "ENST00000646628.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 3,
          "intron_rank": 2,
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          "gene_symbol": "TSBP1-AS1",
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          "hgvs_c": "n.563+2379G>C",
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          "cdna_length": 2246,
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        {
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          ],
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TSBP1-AS1",
          "gene_hgnc_id": 39756,
          "hgvs_c": "n.504-13404G>C",
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          "transcript": "ENST00000653922.2",
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      "gene_symbol": "TSBP1",
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      "gnomad_exomes_af": null,
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      "computational_score_selected": -0.8899999856948853,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
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      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.89,
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      "phylop100way_score": -0.102,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_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",
          "transcript": "ENST00000533191.6",
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        {
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NR_136244.1",
          "gene_symbol": "TSBP1-AS1",
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          "effects": [
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          ],
          "inheritance_mode": "",
          "hgvs_c": "n.441-13404G>C",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}