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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: 14-25010336-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=25010336&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 25010336,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_014178.9",
      "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "NM_001394410.1",
          "protein_id": "NP_001381339.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000323944.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394410.1"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "ENST00000323944.10",
          "protein_id": "ENSP00000324302.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001394410.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000323944.10"
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-33+189G>A",
          "hgvs_p": null,
          "transcript": "ENST00000396700.5",
          "protein_id": "ENSP00000379928.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396700.5"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "ENST00000419632.6",
          "protein_id": "ENSP00000397212.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000419632.6"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "ENST00000546511.5",
          "protein_id": "ENSP00000449536.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546511.5"
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-33+189G>A",
          "hgvs_p": null,
          "transcript": "NM_001304476.3",
          "protein_id": "NP_001291405.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001304476.3"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "NM_001304477.3",
          "protein_id": "NP_001291406.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001304477.3"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-119-22364G>A",
          "hgvs_p": null,
          "transcript": "NM_001351940.3",
          "protein_id": "NP_001338869.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351940.3"
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-32-35486G>A",
          "hgvs_p": null,
          "transcript": "NM_001351941.3",
          "protein_id": "NP_001338870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351941.3"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-108-33093G>A",
          "hgvs_p": null,
          "transcript": "NM_001351942.3",
          "protein_id": "NP_001338871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-108-33093G>A",
          "hgvs_p": null,
          "transcript": "NM_001351943.3",
          "protein_id": "NP_001338872.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 210,
          "cds_start": null,
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          "cds_length": 633,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "STXBP6",
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          "hgvs_c": "c.-120+22207G>A",
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          "transcript": "NM_001394411.1",
          "protein_id": "NP_001381340.1",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "gene_symbol": "STXBP6",
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          "hgvs_c": "c.-153-15352G>A",
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          "transcript": "NM_001394412.1",
          "protein_id": "NP_001381341.1",
          "transcript_support_level": null,
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        {
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          "protein_coding": true,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-33+22207G>A",
          "hgvs_p": null,
          "transcript": "NM_001394413.1",
          "protein_id": "NP_001381342.1",
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        {
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        {
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          "exon_count": 8,
          "intron_rank": 1,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-226-22364G>A",
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          "transcript": "NM_001394415.1",
          "protein_id": "NP_001381344.1",
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        {
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-33+189G>A",
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          "transcript": "NM_001394416.1",
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        {
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        {
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          "exon_count": 7,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-119-22364G>A",
          "hgvs_p": null,
          "transcript": "ENST00000886564.1",
          "protein_id": "ENSP00000556623.1",
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          "cdna_length": null,
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        },
        {
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          "consequences": [
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          ],
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          "cds_length": 633,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047431296.1"
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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            "intron_variant"
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          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 1,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.-227+189G>A",
          "hgvs_p": null,
          "transcript": "XM_047431298.1",
          "protein_id": "XP_047287254.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 633,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047431298.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 1,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "n.-119-22364G>A",
          "hgvs_p": null,
          "transcript": "ENST00000548182.1",
          "protein_id": "ENSP00000447268.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000548182.1"
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      ],
      "gene_symbol": "STXBP6",
      "gene_hgnc_id": 19666,
      "dbsnp": "rs11850957",
      "frequency_reference_population": 0.29147923,
      "hom_count_reference_population": 8116,
      "allele_count_reference_population": 44320,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.291479,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 44320,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 8116,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5099999904632568,
      "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": -0.51,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.024,
      "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": -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": "NM_014178.9",
          "gene_symbol": "STXBP6",
          "hgnc_id": 19666,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-32-35486G>A",
          "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
}