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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: 11-66850861-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66850861&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 66850861,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000393960.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001040716.2",
          "protein_id": "NP_001035806.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2575,
          "cdna_end": null,
          "cdna_length": 4305,
          "mane_select": "ENST00000393960.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000393960.7",
          "protein_id": "ENSP00000377532.1",
          "transcript_support_level": 5,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2575,
          "cdna_end": null,
          "cdna_length": 4305,
          "mane_select": "NM_001040716.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000393955.6",
          "protein_id": "ENSP00000377527.2",
          "transcript_support_level": 1,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2367,
          "cdna_end": null,
          "cdna_length": 4004,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000393958.7",
          "protein_id": "ENSP00000377530.2",
          "transcript_support_level": 1,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2387,
          "cdna_end": null,
          "cdna_length": 4017,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "n.290-796C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525476.2",
          "protein_id": null,
          "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": 511,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_000920.4",
          "protein_id": "NP_000911.2",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2387,
          "cdna_end": null,
          "cdna_length": 4117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439352.1",
          "protein_id": "NP_001426281.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2515,
          "cdna_end": null,
          "cdna_length": 4245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439353.1",
          "protein_id": "NP_001426282.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2348,
          "cdna_end": null,
          "cdna_length": 4078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439355.1",
          "protein_id": "NP_001426284.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2832,
          "cdna_end": null,
          "cdna_length": 4562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439357.1",
          "protein_id": "NP_001426286.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2644,
          "cdna_end": null,
          "cdna_length": 4374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439358.1",
          "protein_id": "NP_001426287.1",
          "transcript_support_level": null,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 2551,
          "cdna_end": null,
          "cdna_length": 4281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_001439359.1",
          "protein_id": "NP_001426288.1",
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          "cdna_start": 2433,
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          "mane_select": null,
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        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "PC",
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          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "NM_022172.3",
          "protein_id": "NP_071504.2",
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          "aa_start": 762,
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          "cdna_start": 2419,
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000529047.6",
          "protein_id": "ENSP00000435905.2",
          "transcript_support_level": 3,
          "aa_start": 762,
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          "cds_start": 2286,
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          "cdna_start": 2515,
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          "cdna_length": 4248,
          "mane_select": null,
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        },
        {
          "aa_ref": "R",
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          ],
          "exon_rank": 20,
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          "gene_symbol": "PC",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000651854.1",
          "protein_id": "ENSP00000498994.1",
          "transcript_support_level": null,
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          "cdna_length": 5137,
          "mane_select": null,
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        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "ENST00000652125.1",
          "protein_id": "ENSP00000498302.1",
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        },
        {
          "aa_ref": "R",
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PC",
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          "hgvs_c": "c.2286C>T",
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          "transcript": "XM_005274031.5",
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        {
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          ],
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg",
          "transcript": "XM_017017869.2",
          "protein_id": "XP_016873358.1",
          "transcript_support_level": null,
          "aa_start": 762,
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          "cdna_start": 2703,
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          "cdna_length": 4433,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PC",
          "gene_hgnc_id": 8636,
          "hgvs_c": "c.990C>T",
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      "gene_symbol": "PC",
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.5199999809265137,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.203,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
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          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong",
            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000393960.7",
          "gene_symbol": "PC",
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          "effects": [
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          "inheritance_mode": "AR",
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Arg762Arg"
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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
}