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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: 5-79647825-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=79647825&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 79647825,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000453514.6",
      "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": 15,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.822-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001114394.3",
          "protein_id": "NP_001107866.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5100,
          "mane_select": "ENST00000453514.6",
          "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": 15,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.822-792G>C",
          "hgvs_p": null,
          "transcript": "ENST00000453514.6",
          "protein_id": "ENSP00000397563.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5100,
          "mane_select": "NM_001114394.3",
          "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": 16,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.810-792G>C",
          "hgvs_p": null,
          "transcript": "ENST00000423041.6",
          "protein_id": "ENSP00000393412.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3223,
          "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.822-792G>C",
          "hgvs_p": null,
          "transcript": "ENST00000504233.5",
          "protein_id": "ENSP00000421966.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2997,
          "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": 15,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.897-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001349549.2",
          "protein_id": "NP_001336478.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5175,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.897-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001349550.2",
          "protein_id": "NP_001336479.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4970,
          "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": 16,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.897-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001388093.1",
          "protein_id": "NP_001375022.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4934,
          "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": 16,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.897-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001388094.1",
          "protein_id": "NP_001375023.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4856,
          "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": 15,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.885-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001349551.2",
          "protein_id": "NP_001336480.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
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          "cds_length": 1518,
          "cdna_start": null,
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          "cdna_length": 5163,
          "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": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.885-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001388095.1",
          "protein_id": "NP_001375024.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
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          "cds_length": 1518,
          "cdna_start": null,
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          "cdna_length": 5300,
          "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": [
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          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 9,
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          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.885-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001388096.1",
          "protein_id": "NP_001375025.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 505,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4918,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
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          "hgvs_c": "c.885-792G>C",
          "hgvs_p": null,
          "transcript": "NM_001388097.1",
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        {
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          "consequences": [
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          "intron_rank": 8,
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          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.882-792G>C",
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          "gene_symbol": "TENT2",
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          "hgvs_c": "c.852-792G>C",
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          "transcript": "NM_001388099.1",
          "protein_id": "NP_001375028.1",
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          "mane_select": null,
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        {
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          "gene_symbol": "TENT2",
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          "gene_symbol": "TENT2",
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          "hgvs_c": "c.840-792G>C",
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          "transcript": "NM_001388101.1",
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          "intron_rank": 9,
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          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.822-792G>C",
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          "transcript": "NM_001114393.3",
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        {
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          "gene_symbol": "TENT2",
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          "gene_symbol": "TENT2",
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          "gene_symbol": "TENT2",
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          "hgvs_c": "c.822-792G>C",
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 16,
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          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.822-792G>C",
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          "transcript": "NM_001388103.1",
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TENT2",
          "gene_hgnc_id": 26776,
          "hgvs_c": "c.135-792G>C",
          "hgvs_p": null,
          "transcript": "XM_047416864.1",
          "protein_id": "XP_047272820.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 255,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 768,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TENT2",
      "gene_hgnc_id": 26776,
      "dbsnp": "rs6859704",
      "frequency_reference_population": 0.20722662,
      "hom_count_reference_population": 4685,
      "allele_count_reference_population": 31457,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.207227,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 31457,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 4685,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9900000095367432,
      "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": -0.99,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.583,
      "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": "ENST00000453514.6",
          "gene_symbol": "TENT2",
          "hgnc_id": 26776,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.822-792G>C",
          "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
}