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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: 11-18481759-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18481759&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TSG101",
"hgnc_id": 15971,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_006292.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 7653,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1173,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006292.4",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251968.4",
"protein_coding": true,
"protein_id": "NP_006283.1",
"strand": false,
"transcript": "NM_006292.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1173,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000251968.4",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006292.4",
"protein_coding": true,
"protein_id": "ENSP00000251968.3",
"strand": false,
"transcript": "ENST00000251968.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1056,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860304.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Ile352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530363.1",
"strand": false,
"transcript": "ENST00000860304.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 421,
"aa_ref": "I",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1047,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860307.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.1047C>T",
"hgvs_p": "p.Ile349Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530366.1",
"strand": false,
"transcript": "ENST00000860307.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 413,
"aa_ref": "I",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860308.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.1023C>T",
"hgvs_p": "p.Ile341Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530367.1",
"strand": false,
"transcript": "ENST00000860308.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1173,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860301.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530360.1",
"strand": false,
"transcript": "ENST00000860301.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1173,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860302.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530361.1",
"strand": false,
"transcript": "ENST00000860302.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1173,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860303.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530362.1",
"strand": false,
"transcript": "ENST00000860303.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 389,
"aa_ref": "I",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1170,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930643.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.951C>T",
"hgvs_p": "p.Ile317Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600702.1",
"strand": false,
"transcript": "ENST00000930643.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 388,
"aa_ref": "I",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1167,
"cds_start": 948,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941965.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.948C>T",
"hgvs_p": "p.Ile316Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612024.1",
"strand": false,
"transcript": "ENST00000941965.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1119,
"cds_start": 900,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930644.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.900C>T",
"hgvs_p": "p.Ile300Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600703.1",
"strand": false,
"transcript": "ENST00000930644.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 368,
"aa_ref": "I",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1107,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860306.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530365.1",
"strand": false,
"transcript": "ENST00000860306.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1098,
"cds_start": 954,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000536719.5",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Ile318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438471.1",
"strand": false,
"transcript": "ENST00000536719.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 355,
"aa_ref": "I",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1068,
"cds_start": 849,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930645.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Ile283Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600704.1",
"strand": false,
"transcript": "ENST00000930645.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 294,
"aa_ref": "I",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 752,
"cds_end": null,
"cds_length": 885,
"cds_start": 666,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930646.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Ile222Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600705.1",
"strand": false,
"transcript": "ENST00000930646.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 285,
"aa_ref": "I",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1208,
"cdna_start": 754,
"cds_end": null,
"cds_length": 858,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860305.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Ile213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530364.1",
"strand": false,
"transcript": "ENST00000860305.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 338,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1017,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005253108.5",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "c.798C>T",
"hgvs_p": "p.Ile266Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253165.1",
"strand": false,
"transcript": "XM_005253108.5",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000540555.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "n.303C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000540555.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000584526.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "n.12C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463213.1",
"strand": false,
"transcript": "ENST00000584526.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580814.1",
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"hgvs_c": "n.-28C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464386.1",
"strand": true,
"transcript": "ENST00000580814.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs8018",
"effect": "synonymous_variant",
"frequency_reference_population": 0.004741236,
"gene_hgnc_id": 15971,
"gene_symbol": "TSG101",
"gnomad_exomes_ac": 4023,
"gnomad_exomes_af": 0.00275199,
"gnomad_exomes_homalt": 136,
"gnomad_genomes_ac": 3630,
"gnomad_genomes_af": 0.0238367,
"gnomad_genomes_homalt": 145,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 281,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.006,
"pos": 18481759,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.1,
"transcript": "NM_006292.4"
}
]
}