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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: 14-20354893-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20354893&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20354893,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000429687.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283Gln",
"transcript": "NM_001042618.2",
"protein_id": "NP_001036083.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 570,
"cds_start": 848,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "ENST00000429687.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283Gln",
"transcript": "ENST00000429687.8",
"protein_id": "ENSP00000392972.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 570,
"cds_start": 848,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "NM_001042618.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000250416.9",
"protein_id": "ENSP00000250416.5",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 583,
"cds_start": 887,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "NM_005484.4",
"protein_id": "NP_005475.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 583,
"cds_start": 887,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000527915.5",
"protein_id": "ENSP00000432283.1",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 531,
"cds_start": 887,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_005267247.4",
"protein_id": "XP_005267304.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 500,
"cds_start": 887,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283Gln",
"transcript": "XM_017020912.2",
"protein_id": "XP_016876401.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 487,
"cds_start": 848,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1702,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.252G>A",
"hgvs_p": null,
"transcript": "ENST00000527384.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 429,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000529465.6",
"protein_id": "ENSP00000431867.2",
"transcript_support_level": 4,
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "c.-8G>A",
"hgvs_p": null,
"transcript": "XM_047430869.1",
"protein_id": "XP_047286825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000529465.6",
"protein_id": "ENSP00000431867.2",
"transcript_support_level": 4,
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARP2",
"gene_hgnc_id": 272,
"dbsnp": "rs3093926",
"frequency_reference_population": 0.056100056,
"hom_count_reference_population": 2935,
"allele_count_reference_population": 90518,
"gnomad_exomes_af": 0.0575835,
"gnomad_genomes_af": 0.0418485,
"gnomad_exomes_ac": 84152,
"gnomad_genomes_ac": 6366,
"gnomad_exomes_homalt": 2741,
"gnomad_genomes_homalt": 194,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006365180015563965,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.756,
"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": "ENST00000429687.8",
"gene_symbol": "PARP2",
"hgnc_id": 272,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}