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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: 11-65864791-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65864791&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65864791,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000308110.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Thr416Thr",
"transcript": "NM_025128.5",
"protein_id": "NP_079404.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 551,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": "ENST00000308110.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Thr416Thr",
"transcript": "ENST00000308110.9",
"protein_id": "ENSP00000307853.4",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 551,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": "NM_025128.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1251G>T",
"hgvs_p": "p.Thr417Thr",
"transcript": "NM_001350283.2",
"protein_id": "NP_001337212.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 552,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Thr341Thr",
"transcript": "ENST00000533035.5",
"protein_id": "ENSP00000432287.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 476,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Thr341Thr",
"transcript": "ENST00000529374.5",
"protein_id": "ENSP00000434305.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 409,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1231,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1251G>T",
"hgvs_p": "p.Thr417Thr",
"transcript": "XM_011545269.2",
"protein_id": "XP_011543571.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 552,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Thr416Thr",
"transcript": "XM_011545270.2",
"protein_id": "XP_011543572.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 551,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1251G>T",
"hgvs_p": "p.Thr417Thr",
"transcript": "XM_047427635.1",
"protein_id": "XP_047283591.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 425,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Thr416Thr",
"transcript": "XM_047427636.1",
"protein_id": "XP_047283592.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 424,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1625,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.1140G>T",
"hgvs_p": null,
"transcript": "ENST00000524647.5",
"protein_id": "ENSP00000433473.1",
"transcript_support_level": 5,
"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": 1817,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.458G>T",
"hgvs_p": null,
"transcript": "ENST00000525147.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 482,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.261G>T",
"hgvs_p": null,
"transcript": "ENST00000525224.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 285,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.205G>T",
"hgvs_p": null,
"transcript": "ENST00000529786.1",
"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": 759,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.818G>T",
"hgvs_p": null,
"transcript": "ENST00000530928.5",
"protein_id": null,
"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": 1793,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.2260G>T",
"hgvs_p": null,
"transcript": "ENST00000531905.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3420,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.1569G>T",
"hgvs_p": null,
"transcript": "NR_146598.2",
"protein_id": null,
"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": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"hgvs_c": "n.-69G>T",
"hgvs_p": null,
"transcript": "ENST00000530282.1",
"protein_id": null,
"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": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MUS81",
"gene_hgnc_id": 29814,
"dbsnp": "rs558114",
"frequency_reference_population": 0.6274183,
"hom_count_reference_population": 328492,
"allele_count_reference_population": 1011978,
"gnomad_exomes_af": 0.638064,
"gnomad_genomes_af": 0.525142,
"gnomad_exomes_ac": 932128,
"gnomad_genomes_ac": 79850,
"gnomad_exomes_homalt": 304820,
"gnomad_genomes_homalt": 23672,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05299999937415123,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -9.367,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000308110.9",
"gene_symbol": "MUS81",
"hgnc_id": 29814,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1248G>T",
"hgvs_p": "p.Thr416Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}