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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: 20-57329973-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57329973&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57329973,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371263.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "NM_012444.3",
"protein_id": "NP_036576.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 396,
"cds_start": 106,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": "ENST00000371263.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "ENST00000371263.8",
"protein_id": "ENSP00000360310.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 396,
"cds_start": 106,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": "NM_012444.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "ENST00000345868.8",
"protein_id": "ENSP00000316034.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 358,
"cds_start": 106,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "NM_198265.2",
"protein_id": "NP_937998.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 358,
"cds_start": 106,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "ENST00000371260.8",
"protein_id": "ENSP00000360307.4",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 354,
"cds_start": 106,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.40A>T",
"hgvs_p": "p.Thr14Ser",
"transcript": "ENST00000418127.5",
"protein_id": "ENSP00000413185.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 269,
"cds_start": 40,
"cds_end": null,
"cds_length": 810,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "XM_005260379.4",
"protein_id": "XP_005260436.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 407,
"cds_start": 106,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "XM_005260380.4",
"protein_id": "XP_005260437.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 405,
"cds_start": 106,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "XM_005260381.4",
"protein_id": "XP_005260438.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 394,
"cds_start": 106,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "XM_011528756.3",
"protein_id": "XP_011527058.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 369,
"cds_start": 106,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser",
"transcript": "XM_005260382.5",
"protein_id": "XP_005260439.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 309,
"cds_start": 106,
"cds_end": null,
"cds_length": 930,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 1680,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"hgvs_c": "c.-363A>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": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPO11",
"gene_hgnc_id": 11250,
"dbsnp": "rs28368062",
"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": 0.060759156942367554,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000371263.8",
"gene_symbol": "SPO11",
"hgnc_id": 11250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Thr36Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}