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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: 20-57331891-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57331891&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57331891,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_012444.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "NM_012444.3",
"protein_id": "NP_036576.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 396,
"cds_start": 190,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371263.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012444.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "ENST00000371263.8",
"protein_id": "ENSP00000360310.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 396,
"cds_start": 190,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012444.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371263.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.132-1297A>T",
"hgvs_p": null,
"transcript": "ENST00000345868.8",
"protein_id": "ENSP00000316034.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345868.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.-81A>T",
"hgvs_p": null,
"transcript": "XM_011528757.3",
"protein_id": "XP_011527059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528757.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.124A>T",
"hgvs_p": "p.Arg42*",
"transcript": "ENST00000418127.5",
"protein_id": "ENSP00000413185.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 269,
"cds_start": 124,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418127.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "XM_005260379.4",
"protein_id": "XP_005260436.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 407,
"cds_start": 190,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260379.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "XM_005260380.4",
"protein_id": "XP_005260437.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 405,
"cds_start": 190,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260380.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "XM_005260381.4",
"protein_id": "XP_005260438.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 394,
"cds_start": 190,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260381.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*",
"transcript": "XM_005260382.5",
"protein_id": "XP_005260439.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 309,
"cds_start": 190,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260382.5"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.-81A>T",
"hgvs_p": null,
"transcript": "XM_011528757.3",
"protein_id": "XP_011527059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528757.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.132-1297A>T",
"hgvs_p": null,
"transcript": "NM_198265.2",
"protein_id": "NP_937998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198265.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.132-1297A>T",
"hgvs_p": null,
"transcript": "ENST00000371260.8",
"protein_id": "ENSP00000360307.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371260.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.132-1297A>T",
"hgvs_p": null,
"transcript": "XM_011528756.3",
"protein_id": "XP_011527058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528756.3"
}
],
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"dbsnp": "rs189739775",
"frequency_reference_population": 6.871388e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87139e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"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": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.926,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_012444.3",
"gene_symbol": "SPO11",
"hgnc_id": 11250,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190A>T",
"hgvs_p": "p.Arg64*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}