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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: 10-114179297-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114179297&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114179297,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_198795.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000251864.7",
"protein_id": "ENSP00000251864.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000251864.7",
"protein_id": "ENSP00000251864.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"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_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-93T>C",
"hgvs_p": null,
"transcript": "NM_001385363.1",
"protein_id": "NP_001372292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4822,
"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_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "NM_198795.2",
"protein_id": "NP_942090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"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_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "NM_001385365.1",
"protein_id": "NP_001372294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4767,
"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_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "NM_001385366.1",
"protein_id": "NP_001372295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
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"cds_length": 3372,
"cdna_start": null,
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"cdna_length": 8044,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "NM_001385367.1",
"protein_id": "NP_001372296.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000369282.5",
"protein_id": "ENSP00000358288.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
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"cds_length": 3342,
"cdna_start": null,
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"cdna_length": 3705,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "NM_001385368.1",
"protein_id": "NP_001372297.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "TDRD1",
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},
{
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],
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],
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],
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],
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],
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},
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],
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.-93T>C",
"hgvs_p": null,
"transcript": "NM_001365891.2",
"protein_id": "NP_001352820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"dbsnp": "rs77559927",
"frequency_reference_population": 0.012760215,
"hom_count_reference_population": 179,
"allele_count_reference_population": 1948,
"gnomad_exomes_af": 0.00802139,
"gnomad_genomes_af": 0.0127719,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1945,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 179,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.4,
"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": "NM_198795.2",
"gene_symbol": "TDRD1",
"hgnc_id": 11712,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-126T>C",
"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
}