← Back to variant description
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: 12-111644285-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111644285&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111644285,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006768.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Ala565Thr",
"transcript": "NM_006768.5",
"protein_id": "NP_006759.3",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 592,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419234.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006768.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Ala565Thr",
"transcript": "ENST00000419234.9",
"protein_id": "ENSP00000403524.3",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 592,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006768.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419234.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"transcript": "ENST00000327551.6",
"protein_id": "ENSP00000330813.5",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 562,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327551.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Ala552Thr",
"transcript": "ENST00000871570.1",
"protein_id": "ENSP00000541629.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 579,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871570.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"transcript": "ENST00000871569.1",
"protein_id": "ENSP00000541628.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 562,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871569.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Ala527Thr",
"transcript": "ENST00000871567.1",
"protein_id": "ENSP00000541626.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 554,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871567.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Ala511Thr",
"transcript": "ENST00000871566.1",
"protein_id": "ENSP00000541625.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 538,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871566.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Ala490Thr",
"transcript": "ENST00000871571.1",
"protein_id": "ENSP00000541630.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 517,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871571.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Ala482Thr",
"transcript": "ENST00000871568.1",
"protein_id": "ENSP00000541627.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 509,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871568.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000930028.1",
"protein_id": "ENSP00000600087.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 455,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930028.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"transcript": "ENST00000871565.1",
"protein_id": "ENSP00000541624.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 434,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871565.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr",
"transcript": "ENST00000930027.1",
"protein_id": "ENSP00000600086.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 366,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930027.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Ala606Thr",
"transcript": "XM_005253944.5",
"protein_id": "XP_005254001.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 633,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253944.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Ala511Thr",
"transcript": "XM_017019992.2",
"protein_id": "XP_016875481.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 538,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019992.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Ala416Thr",
"transcript": "XM_047429622.1",
"protein_id": "XP_047285578.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 443,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429622.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr",
"transcript": "XM_047429623.1",
"protein_id": "XP_047285579.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 305,
"cds_start": 832,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429623.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2-AS",
"gene_hgnc_id": 51838,
"hgvs_c": "n.110-4895C>T",
"hgvs_p": null,
"transcript": "ENST00000726948.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000726948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2-AS",
"gene_hgnc_id": 51838,
"hgvs_c": "n.548-4895C>T",
"hgvs_p": null,
"transcript": "ENST00000726949.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000726949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "n.*54G>A",
"hgvs_p": null,
"transcript": "ENST00000547043.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547043.1"
}
],
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"dbsnp": "rs756787438",
"frequency_reference_population": 0.000022305108,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000212061,
"gnomad_genomes_af": 0.0000328658,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09017512202262878,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.73,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006768.5",
"gene_symbol": "BRAP",
"hgnc_id": 1099,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Ala565Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000726948.1",
"gene_symbol": "ATXN2-AS",
"hgnc_id": 51838,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.110-4895C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}