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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: 16-259156-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=259156&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 259156,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000399932.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "NM_032039.4",
          "protein_id": "NP_114428.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2909,
          "mane_select": "ENST00000399932.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000399932.8",
          "protein_id": "ENSP00000382814.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2909,
          "mane_select": "NM_032039.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000301678.7",
          "protein_id": "ENSP00000301678.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "NM_001284497.2",
          "protein_id": "NP_001271426.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000301679.7",
          "protein_id": "ENSP00000301679.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 540,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1623,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000449945.5",
          "protein_id": "ENSP00000407669.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 241,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 728,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000453430.5",
          "protein_id": "ENSP00000399150.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.53-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000421000.1",
          "protein_id": "ENSP00000412581.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 233,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 702,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000420046.5",
          "protein_id": "ENSP00000398433.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 232,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 699,
          "cdna_start": null,
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          "cdna_length": 1006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "ENST00000438220.5",
          "protein_id": "ENSP00000402119.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 130,
          "cds_start": -4,
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          "cds_length": 393,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-813C>G",
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          "transcript": "ENST00000420500.5",
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          "transcript_support_level": 5,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
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          "intron_rank": 4,
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          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
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          "transcript": "ENST00000419173.5",
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        {
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          "gene_symbol": "FAM234A",
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          "hgvs_c": "n.561-327C>G",
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        {
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          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "n.269-327C>G",
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        {
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          "gene_symbol": "FAM234A",
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          "transcript": "ENST00000654053.1",
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          "gene_symbol": "FAM234A",
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        {
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          "biotype": null,
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          ],
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          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
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          "transcript": "XM_011522691.2",
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          "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": 4225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FAM234A",
          "gene_hgnc_id": 14163,
          "hgvs_c": "c.269-327C>G",
          "hgvs_p": null,
          "transcript": "XM_017023765.3",
          "protein_id": "XP_016879254.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FAM234A",
      "gene_hgnc_id": 14163,
      "dbsnp": "rs1122794",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8799999952316284,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.88,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.057,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000399932.8",
          "gene_symbol": "FAM234A",
          "hgnc_id": 14163,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.269-327C>G",
          "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
}