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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: 11-46673864-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46673864&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 46673864,
      "ref": "T",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001205119.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346311.2",
          "protein_id": "NP_001333240.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683050.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346311.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000683050.1",
          "protein_id": "ENSP00000507809.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001346311.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683050.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000359513.8",
          "protein_id": "ENSP00000352500.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359513.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000524625.5",
          "protein_id": "ENSP00000433543.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524625.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001205119.2",
          "protein_id": "NP_001192048.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001205119.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346312.2",
          "protein_id": "NP_001333241.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346312.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346313.2",
          "protein_id": "NP_001333242.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346313.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346314.2",
          "protein_id": "NP_001333243.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346314.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346315.2",
          "protein_id": "NP_001333244.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346315.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "NM_001346316.2",
          "protein_id": "NP_001333245.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
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          "cds_length": 1653,
          "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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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000890928.1",
          "protein_id": "ENSP00000560987.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
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          "cds_length": 1653,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000890928.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
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          "aa_length": 550,
          "cds_start": null,
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
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          "transcript": "ENST00000890939.1",
          "protein_id": "ENSP00000560998.1",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000890945.1",
          "protein_id": "ENSP00000561004.1",
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        {
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          "gene_symbol": "ATG13",
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          ],
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
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          "transcript": "NM_001346318.2",
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        {
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          "exon_count": 19,
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          "gene_symbol": "ATG13",
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          "hgvs_c": "c.*1532T>A",
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          "protein_id": "ENSP00000561008.1",
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        {
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        {
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          ],
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ATG13",
          "gene_hgnc_id": 29091,
          "hgvs_c": "c.*1532T>A",
          "hgvs_p": null,
          "transcript": "ENST00000890948.1",
          "protein_id": "ENSP00000561007.1",
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          "aa_start": null,
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          "aa_length": 536,
          "cds_start": null,
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          "cds_length": 1611,
          "cdna_start": null,
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          "cdna_length": null,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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      ],
      "gene_symbol": "ATG13",
      "gene_hgnc_id": 29091,
      "dbsnp": "rs13448",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 0,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.699999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.7,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.254,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001205119.2",
          "gene_symbol": "ATG13",
          "hgnc_id": 29091,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.*1532T>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
}
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