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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: 4-121801892-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=121801892&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 121801892,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001034194.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_005033.3",
"protein_id": "NP_005024.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 132,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": "ENST00000243498.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005033.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000243498.10",
"protein_id": "ENSP00000243498.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 132,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": "NM_005033.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243498.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000379663.7",
"protein_id": "ENSP00000368984.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 456,
"cds_start": 132,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379663.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.84A>T",
"hgvs_p": "p.Gly28Gly",
"transcript": "ENST00000512454.5",
"protein_id": "ENSP00000425782.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 423,
"cds_start": 84,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512454.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_001034194.2",
"protein_id": "NP_001029366.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 456,
"cds_start": 132,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034194.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000940329.1",
"protein_id": "ENSP00000610388.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 449,
"cds_start": 132,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940329.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000940330.1",
"protein_id": "ENSP00000610389.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 449,
"cds_start": 132,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940330.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000962074.1",
"protein_id": "ENSP00000632133.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 443,
"cds_start": 132,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962074.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000940328.1",
"protein_id": "ENSP00000610387.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 432,
"cds_start": 132,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940328.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000940331.1",
"protein_id": "ENSP00000610390.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 384,
"cds_start": 132,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940331.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000876433.1",
"protein_id": "ENSP00000546492.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 367,
"cds_start": 132,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876433.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000962073.1",
"protein_id": "ENSP00000632132.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 321,
"cds_start": 132,
"cds_end": null,
"cds_length": 966,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962073.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000509800.5",
"protein_id": "ENSP00000422205.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 225,
"cds_start": 132,
"cds_end": null,
"cds_length": 678,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509800.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_011532035.4",
"protein_id": "XP_011530337.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 392,
"cds_start": 132,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532035.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "n.239A>T",
"hgvs_p": null,
"transcript": "ENST00000509980.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "n.132A>T",
"hgvs_p": null,
"transcript": "ENST00000511454.5",
"protein_id": "ENSP00000421845.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511454.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "n.132A>T",
"hgvs_p": null,
"transcript": "ENST00000513654.5",
"protein_id": "ENSP00000423476.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513654.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"hgvs_c": "n.234A>T",
"hgvs_p": null,
"transcript": "XR_007057929.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007057929.1"
}
],
"gene_symbol": "EXOSC9",
"gene_hgnc_id": 9137,
"dbsnp": "rs777720699",
"frequency_reference_population": 0.000006816506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615804,
"gnomad_genomes_af": 0.0000131384,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.002,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001034194.2",
"gene_symbol": "EXOSC9",
"hgnc_id": 9137,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.132A>T",
"hgvs_p": "p.Gly44Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}