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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: 8-144355990-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144355990&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 144355990,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_012162.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "c.1450C>T",
          "hgvs_p": "p.Arg484Trp",
          "transcript": "NM_012162.4",
          "protein_id": "NP_036294.2",
          "transcript_support_level": null,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": 1450,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": 1475,
          "cdna_end": null,
          "cdna_length": 1745,
          "mane_select": "ENST00000331890.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "c.1450C>T",
          "hgvs_p": "p.Arg484Trp",
          "transcript": "ENST00000331890.6",
          "protein_id": "ENSP00000330098.5",
          "transcript_support_level": 1,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": 1450,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": 1475,
          "cdna_end": null,
          "cdna_length": 1745,
          "mane_select": "NM_012162.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "c.1432C>T",
          "hgvs_p": "p.Arg478Trp",
          "transcript": "ENST00000455319.6",
          "protein_id": "ENSP00000403873.2",
          "transcript_support_level": 1,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": 1457,
          "cdna_end": null,
          "cdna_length": 1727,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "n.2838C>T",
          "hgvs_p": null,
          "transcript": "ENST00000530142.5",
          "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": 3108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "c.1432C>T",
          "hgvs_p": "p.Arg478Trp",
          "transcript": "NM_024555.6",
          "protein_id": "NP_078831.4",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": 1457,
          "cdna_end": null,
          "cdna_length": 1727,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "n.1737C>T",
          "hgvs_p": null,
          "transcript": "ENST00000524492.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2007,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SLC52A2",
          "gene_hgnc_id": 30224,
          "hgvs_c": "c.-462-1261G>A",
          "hgvs_p": null,
          "transcript": "ENST00000532815.2",
          "protein_id": "ENSP00000501933.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2104,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SLC52A2",
          "gene_hgnc_id": 30224,
          "hgvs_c": "c.-111+607G>A",
          "hgvs_p": null,
          "transcript": "ENST00000675292.1",
          "protein_id": "ENSP00000502652.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2099,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SLC52A2",
          "gene_hgnc_id": 30224,
          "hgvs_c": "c.-110-3194G>A",
          "hgvs_p": null,
          "transcript": "ENST00000675888.1",
          "protein_id": "ENSP00000502294.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1840,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SLC52A2",
          "gene_hgnc_id": 30224,
          "hgvs_c": "c.-111+1679G>A",
          "hgvs_p": null,
          "transcript": "ENST00000524541.5",
          "protein_id": "ENSP00000434239.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 495,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "n.533+310C>T",
          "hgvs_p": null,
          "transcript": "ENST00000526524.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SLC52A2",
          "gene_hgnc_id": 30224,
          "hgvs_c": "n.193+1145G>A",
          "hgvs_p": null,
          "transcript": "ENST00000644270.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 397,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "n.*146C>T",
          "hgvs_p": null,
          "transcript": "ENST00000524909.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 490,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL6",
          "gene_hgnc_id": 13603,
          "hgvs_c": "n.*98C>T",
          "hgvs_p": null,
          "transcript": "ENST00000527000.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 604,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FBXL6",
      "gene_hgnc_id": 13603,
      "dbsnp": "rs138709765",
      "frequency_reference_population": 0.0001153321,
      "hom_count_reference_population": 1,
      "allele_count_reference_population": 186,
      "gnomad_exomes_af": 0.000118445,
      "gnomad_genomes_af": 0.0000854442,
      "gnomad_exomes_ac": 173,
      "gnomad_genomes_ac": 13,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5589169263839722,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.598,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1609,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.16,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.872,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.03,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_012162.4",
          "gene_symbol": "FBXL6",
          "hgnc_id": 13603,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1450C>T",
          "hgvs_p": "p.Arg484Trp"
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000532815.2",
          "gene_symbol": "SLC52A2",
          "hgnc_id": 30224,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-462-1261G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}