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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: 4-113293529-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113293529&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 113293529,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_001148.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2466C>G",
          "hgvs_p": "p.Thr822Thr",
          "transcript": "NM_001148.6",
          "protein_id": "NP_001139.3",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 2466,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": 2542,
          "cdna_end": null,
          "cdna_length": 14215,
          "mane_select": "ENST00000357077.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2466C>G",
          "hgvs_p": "p.Thr822Thr",
          "transcript": "ENST00000357077.9",
          "protein_id": "ENSP00000349588.4",
          "transcript_support_level": 1,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 2466,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": 2542,
          "cdna_end": null,
          "cdna_length": 14215,
          "mane_select": "NM_001148.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2517C>G",
          "hgvs_p": "p.Thr839Thr",
          "transcript": "ENST00000506344.6",
          "protein_id": "ENSP00000422888.2",
          "transcript_support_level": 1,
          "aa_start": 839,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 2517,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": 2767,
          "cdna_end": null,
          "cdna_length": 14898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2466C>G",
          "hgvs_p": "p.Thr822Thr",
          "transcript": "ENST00000394537.7",
          "protein_id": "ENSP00000378044.3",
          "transcript_support_level": 1,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 1872,
          "cds_start": 2466,
          "cds_end": null,
          "cds_length": 5619,
          "cdna_start": 2519,
          "cdna_end": null,
          "cdna_length": 6313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2403C>G",
          "hgvs_p": "p.Thr801Thr",
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": 801,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": 2403,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": 2598,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2517C>G",
          "hgvs_p": "p.Thr839Thr",
          "transcript": "NM_001386174.1",
          "protein_id": "NP_001373103.1",
          "transcript_support_level": null,
          "aa_start": 839,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 2517,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": 2767,
          "cdna_end": null,
          "cdna_length": 14898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2493C>G",
          "hgvs_p": "p.Thr831Thr",
          "transcript": "NM_001386175.1",
          "protein_id": "NP_001373104.1",
          "transcript_support_level": null,
          "aa_start": 831,
          "aa_end": null,
          "aa_length": 4175,
          "cds_start": 2493,
          "cds_end": null,
          "cds_length": 12528,
          "cdna_start": 2743,
          "cdna_end": null,
          "cdna_length": 14874,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2403C>G",
          "hgvs_p": "p.Thr801Thr",
          "transcript": "ENST00000672209.1",
          "protein_id": "ENSP00000499982.1",
          "transcript_support_level": null,
          "aa_start": 801,
          "aa_end": null,
          "aa_length": 3995,
          "cds_start": 2403,
          "cds_end": null,
          "cds_length": 11988,
          "cdna_start": 2602,
          "cdna_end": null,
          "cdna_length": 14932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2511C>G",
          "hgvs_p": "p.Thr837Thr",
          "transcript": "ENST00000672240.1",
          "protein_id": "ENSP00000500548.1",
          "transcript_support_level": null,
          "aa_start": 837,
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          "cds_start": 2511,
          "cds_end": null,
          "cds_length": 11955,
          "cdna_start": 3104,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
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          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2511C>G",
          "hgvs_p": "p.Thr837Thr",
          "transcript": "ENST00000671971.1",
          "protein_id": "ENSP00000499832.1",
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          "cds_start": 2511,
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        {
          "aa_ref": "T",
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          "hgvs_c": "c.2403C>G",
          "hgvs_p": "p.Thr801Thr",
          "transcript": "ENST00000673298.1",
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          "cdna_start": 2602,
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        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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        {
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          "gene_symbol": "ANK2",
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          "hgvs_c": "c.2379C>G",
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          "transcript": "NM_001386142.1",
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        {
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          "gene_symbol": "ANK2",
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        {
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        {
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          "gene_symbol": "ANK2",
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          "hgvs_c": "c.2403C>G",
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        {
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        {
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          "gene_symbol": "ANK2",
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          "hgvs_p": "p.Thr801Thr",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          "exon_rank_end": null,
          "exon_count": 45,
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      ],
      "gene_symbol": "ANK2",
      "gene_hgnc_id": 493,
      "dbsnp": "rs553116512",
      "frequency_reference_population": 0.000013640129,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 22,
      "gnomad_exomes_af": 0.0000102699,
      "gnomad_genomes_af": 0.0000459601,
      "gnomad_exomes_ac": 15,
      "gnomad_genomes_ac": 7,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.41999998688697815,
      "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": -0.42,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.322,
      "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": -15,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -15,
          "benign_score": 15,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001148.6",
          "gene_symbol": "ANK2",
          "hgnc_id": 493,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.2466C>G",
          "hgvs_p": "p.Thr822Thr"
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      ],
      "clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3",
      "phenotype_combined": "Long QT syndrome|not provided|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}