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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: 7-98978299-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=98978299&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 98978299,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000456197.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8474A>G",
"hgvs_p": "p.Gln2825Arg",
"transcript": "NM_001375524.1",
"protein_id": "NP_001362453.1",
"transcript_support_level": null,
"aa_start": 2825,
"aa_end": null,
"aa_length": 3873,
"cds_start": 8474,
"cds_end": null,
"cds_length": 11622,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 12675,
"mane_select": "ENST00000456197.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8474A>G",
"hgvs_p": "p.Gln2825Arg",
"transcript": "ENST00000456197.2",
"protein_id": "ENSP00000394645.2",
"transcript_support_level": 1,
"aa_start": 2825,
"aa_end": null,
"aa_length": 3873,
"cds_start": 8474,
"cds_end": null,
"cds_length": 11622,
"cdna_start": 8641,
"cdna_end": null,
"cdna_length": 12675,
"mane_select": "NM_001375524.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8453A>G",
"hgvs_p": "p.Gln2818Arg",
"transcript": "ENST00000359863.8",
"protein_id": "ENSP00000352925.4",
"transcript_support_level": 1,
"aa_start": 2818,
"aa_end": null,
"aa_length": 3859,
"cds_start": 8453,
"cds_end": null,
"cds_length": 11580,
"cdna_start": 8662,
"cdna_end": null,
"cdna_length": 12677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8399A>G",
"hgvs_p": "p.Gln2800Arg",
"transcript": "ENST00000355540.7",
"protein_id": "ENSP00000347733.3",
"transcript_support_level": 1,
"aa_start": 2800,
"aa_end": null,
"aa_length": 3830,
"cds_start": 8399,
"cds_end": null,
"cds_length": 11493,
"cdna_start": 8608,
"cdna_end": null,
"cdna_length": 12590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8453A>G",
"hgvs_p": "p.Gln2818Arg",
"transcript": "NM_001244580.2",
"protein_id": "NP_001231509.1",
"transcript_support_level": null,
"aa_start": 2818,
"aa_end": null,
"aa_length": 3859,
"cds_start": 8453,
"cds_end": null,
"cds_length": 11580,
"cdna_start": 8620,
"cdna_end": null,
"cdna_length": 12633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8399A>G",
"hgvs_p": "p.Gln2800Arg",
"transcript": "ENST00000446306.8",
"protein_id": "ENSP00000403708.3",
"transcript_support_level": 5,
"aa_start": 2800,
"aa_end": null,
"aa_length": 3848,
"cds_start": 8399,
"cds_end": null,
"cds_length": 11547,
"cdna_start": 8608,
"cdna_end": null,
"cdna_length": 12640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "c.8399A>G",
"hgvs_p": "p.Gln2800Arg",
"transcript": "NM_003496.4",
"protein_id": "NP_003487.1",
"transcript_support_level": null,
"aa_start": 2800,
"aa_end": null,
"aa_length": 3830,
"cds_start": 8399,
"cds_end": null,
"cds_length": 11493,
"cdna_start": 8566,
"cdna_end": null,
"cdna_length": 12546,
"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": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "n.887A>G",
"hgvs_p": null,
"transcript": "ENST00000360902.2",
"protein_id": "ENSP00000496512.1",
"transcript_support_level": 2,
"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": 8242,
"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": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "n.4211A>G",
"hgvs_p": null,
"transcript": "ENST00000704588.1",
"protein_id": "ENSP00000515962.1",
"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": 7985,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "n.227A>G",
"hgvs_p": null,
"transcript": "ENST00000704589.1",
"protein_id": "ENSP00000515963.1",
"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": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"hgvs_c": "n.*19A>G",
"hgvs_p": null,
"transcript": "ENST00000480695.1",
"protein_id": null,
"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": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRRAP",
"gene_hgnc_id": 12347,
"dbsnp": "rs193920828",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6247584223747253,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000456197.2",
"gene_symbol": "TRRAP",
"hgnc_id": 12347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8474A>G",
"hgvs_p": "p.Gln2825Arg"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}