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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: 12-111644444-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111644444&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BRAP",
"hgnc_id": 1099,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Glu512Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006768.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATXN2-AS",
"hgnc_id": 51838,
"hgvs_c": "n.110-4736C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000726948.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 93,
"alphamissense_prediction": null,
"alphamissense_score": 0.2817,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6251378655433655,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 592,
"aa_ref": "E",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_006768.5",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Glu512Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000419234.9",
"protein_coding": true,
"protein_id": "NP_006759.3",
"strand": false,
"transcript": "NM_006768.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 592,
"aa_ref": "E",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000419234.9",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Glu512Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006768.5",
"protein_coding": true,
"protein_id": "ENSP00000403524.3",
"strand": false,
"transcript": "ENST00000419234.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000327551.6",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Glu482Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330813.5",
"strand": false,
"transcript": "ENST00000327551.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 579,
"aa_ref": "E",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871570.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Glu499Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541629.1",
"strand": false,
"transcript": "ENST00000871570.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871569.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Glu482Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541628.1",
"strand": false,
"transcript": "ENST00000871569.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 554,
"aa_ref": "E",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871567.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Glu474Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541626.1",
"strand": false,
"transcript": "ENST00000871567.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "E",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871566.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541625.1",
"strand": false,
"transcript": "ENST00000871566.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 517,
"aa_ref": "E",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871571.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Glu437Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541630.1",
"strand": false,
"transcript": "ENST00000871571.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871568.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Glu429Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541627.1",
"strand": false,
"transcript": "ENST00000871568.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 455,
"aa_ref": "E",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930028.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Glu375Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600087.1",
"strand": false,
"transcript": "ENST00000930028.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 434,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000871565.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541624.1",
"strand": false,
"transcript": "ENST00000871565.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 366,
"aa_ref": "E",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1101,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930027.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600086.1",
"strand": false,
"transcript": "ENST00000930027.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 633,
"aa_ref": "E",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005253944.5",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Glu553Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254001.1",
"strand": false,
"transcript": "XM_005253944.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "E",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017019992.2",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875481.1",
"strand": false,
"transcript": "XM_017019992.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "E",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429622.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Glu363Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285578.1",
"strand": false,
"transcript": "XM_047429622.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 305,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 752,
"cds_end": null,
"cds_length": 918,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429623.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285579.1",
"strand": false,
"transcript": "XM_047429623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000547043.1",
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"hgvs_c": "n.1438G>A",
"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": "ENST00000547043.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000726948.1",
"gene_hgnc_id": 51838,
"gene_symbol": "ATXN2-AS",
"hgvs_c": "n.110-4736C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000726948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000726949.1",
"gene_hgnc_id": 51838,
"gene_symbol": "ATXN2-AS",
"hgvs_c": "n.548-4736C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000726949.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374914110",
"effect": "missense_variant",
"frequency_reference_population": 0.00005761989,
"gene_hgnc_id": 1099,
"gene_symbol": "BRAP",
"gnomad_exomes_ac": 88,
"gnomad_exomes_af": 0.0000601965,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328627,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.027,
"pos": 111644444,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.243,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006768.5"
}
]
}