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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: 15-63042644-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63042644&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 63042644,
      "ref": "G",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000559831.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000288398.10",
          "protein_id": "ENSP00000288398.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1295,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "n.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000559831.6",
          "protein_id": "ENSP00000452977.2",
          "transcript_support_level": 5,
          "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": 3095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "n.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000559831.6",
          "protein_id": "ENSP00000452977.2",
          "transcript_support_level": 5,
          "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": 3095,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TPM1-AS",
          "gene_hgnc_id": 53635,
          "hgvs_c": "n.122+5921C>T",
          "hgvs_p": null,
          "transcript": "ENST00000804116.1",
          "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": 692,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TPM1-AS",
          "gene_hgnc_id": 53635,
          "hgvs_c": "n.171+744C>T",
          "hgvs_p": null,
          "transcript": "ENST00000804117.1",
          "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": 821,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "NM_001018005.2",
          "protein_id": "NP_001018005.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1217,
          "mane_select": "ENST00000403994.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000403994.9",
          "protein_id": "ENSP00000385107.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1217,
          "mane_select": "NM_001018005.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000267996.11",
          "protein_id": "ENSP00000267996.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000358278.7",
          "protein_id": "ENSP00000351022.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
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          "cds_length": 855,
          "cdna_start": null,
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          "cdna_length": 1717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "ENST00000560970.6",
          "protein_id": "ENSP00000453062.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
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          "cdna_length": 1097,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "n.-107G>A",
          "hgvs_p": null,
          "transcript": "ENST00000558314.5",
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          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1031,
          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
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          "protein_id": "ENSP00000519307.1",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "intron_rank": null,
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          "gene_symbol": "TPM1",
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          "hgvs_c": "c.-186G>A",
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          "transcript": "NM_001365778.1",
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        {
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          "gene_symbol": "TPM1",
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          "hgvs_c": "c.-186G>A",
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          "transcript": "NM_001407322.1",
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          ],
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          "gene_symbol": "TPM1",
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          ],
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          "exon_count": 11,
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          "gene_symbol": "TPM1",
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          ],
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "TPM1",
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          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "NM_001365777.1",
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPM1",
          "gene_hgnc_id": 12010,
          "hgvs_c": "c.-186G>A",
          "hgvs_p": null,
          "transcript": "XM_047433001.1",
          "protein_id": "XP_047288957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TPM1",
      "gene_hgnc_id": 12010,
      "dbsnp": "rs541046450",
      "frequency_reference_population": 0.0016719964,
      "hom_count_reference_population": 11,
      "allele_count_reference_population": 938,
      "gnomad_exomes_af": 0.00196726,
      "gnomad_genomes_af": 0.00087975,
      "gnomad_exomes_ac": 804,
      "gnomad_genomes_ac": 134,
      "gnomad_exomes_homalt": 10,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5799999833106995,
      "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": -0.58,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.433,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000559831.6",
          "gene_symbol": "TPM1",
          "hgnc_id": 12010,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "n.-186G>A",
          "hgvs_p": null
        },
        {
          "score": -9,
          "benign_score": 9,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000804116.1",
          "gene_symbol": "TPM1-AS",
          "hgnc_id": 53635,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.122+5921C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Dilated cardiomyopathy 1Y,Hypertrophic cardiomyopathy 3,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:2 LB:1 B:1",
      "phenotype_combined": "Dilated cardiomyopathy 1Y|Hypertrophic cardiomyopathy 3|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}