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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: 3-126120147-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126120147&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 126120147,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000393434.7",
      "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": 23,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "NM_012190.4",
          "protein_id": "NP_036322.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3064,
          "mane_select": "ENST00000393434.7",
          "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": 23,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000393434.7",
          "protein_id": "ENSP00000377083.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3064,
          "mane_select": "NM_012190.4",
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1919-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000273450.7",
          "protein_id": "ENSP00000273450.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3179,
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.*220-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000393431.6",
          "protein_id": "ENSP00000377081.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2797,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1919-2049T>G",
          "hgvs_p": null,
          "transcript": "NM_001270364.2",
          "protein_id": "NP_001257293.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3178,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000472186.5",
          "protein_id": "ENSP00000420293.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3157,
          "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1586-2049T>G",
          "hgvs_p": null,
          "transcript": "NM_001270365.2",
          "protein_id": "NP_001257294.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2761,
          "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1586-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000452905.6",
          "protein_id": "ENSP00000395881.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2758,
          "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": 22,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.*220-2049T>G",
          "hgvs_p": null,
          "transcript": "ENST00000455064.6",
          "protein_id": "ENSP00000414126.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3137,
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "n.1872-2049T>G",
          "hgvs_p": null,
          "transcript": "NR_072979.2",
          "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": 2813,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "XM_006713481.4",
          "protein_id": "XP_006713544.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3039,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "XM_011512355.2",
          "protein_id": "XP_011510657.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3033,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1889-2049T>G",
          "hgvs_p": null,
          "transcript": "XM_024453325.2",
          "protein_id": "XP_024309093.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3164,
          "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1697-2049T>G",
          "hgvs_p": null,
          "transcript": "XM_017005613.3",
          "protein_id": "XP_016861102.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2956,
          "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ALDH1L1",
          "gene_hgnc_id": 3978,
          "hgvs_c": "c.1667-2049T>G",
          "hgvs_p": null,
          "transcript": "XM_017005614.3",
          "protein_id": "XP_016861103.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2842,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ALDH1L1",
      "gene_hgnc_id": 3978,
      "dbsnp": "rs6774437",
      "frequency_reference_population": 0.4782983,
      "hom_count_reference_population": 17747,
      "allele_count_reference_population": 72753,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.478298,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 72753,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 17747,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8199999928474426,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.82,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.014,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000393434.7",
          "gene_symbol": "ALDH1L1",
          "hgnc_id": 3978,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1889-2049T>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
}