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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: 12-111644317-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111644317&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111644317,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006768.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1661G>A",
"hgvs_p": "p.Arg554Gln",
"transcript": "NM_006768.5",
"protein_id": "NP_006759.3",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 592,
"cds_start": 1661,
"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": "R",
"aa_alt": "Q",
"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.1661G>A",
"hgvs_p": "p.Arg554Gln",
"transcript": "ENST00000419234.9",
"protein_id": "ENSP00000403524.3",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 592,
"cds_start": 1661,
"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": "R",
"aa_alt": "Q",
"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.1571G>A",
"hgvs_p": "p.Arg524Gln",
"transcript": "ENST00000327551.6",
"protein_id": "ENSP00000330813.5",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 562,
"cds_start": 1571,
"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": "R",
"aa_alt": "Q",
"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.1622G>A",
"hgvs_p": "p.Arg541Gln",
"transcript": "ENST00000871570.1",
"protein_id": "ENSP00000541629.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 579,
"cds_start": 1622,
"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": "R",
"aa_alt": "Q",
"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.1571G>A",
"hgvs_p": "p.Arg524Gln",
"transcript": "ENST00000871569.1",
"protein_id": "ENSP00000541628.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 562,
"cds_start": 1571,
"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": "R",
"aa_alt": "Q",
"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.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "ENST00000871567.1",
"protein_id": "ENSP00000541626.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 554,
"cds_start": 1547,
"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": "R",
"aa_alt": "Q",
"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.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "ENST00000871566.1",
"protein_id": "ENSP00000541625.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 538,
"cds_start": 1499,
"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": "R",
"aa_alt": "Q",
"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.1436G>A",
"hgvs_p": "p.Arg479Gln",
"transcript": "ENST00000871571.1",
"protein_id": "ENSP00000541630.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 517,
"cds_start": 1436,
"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": "R",
"aa_alt": "Q",
"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.1412G>A",
"hgvs_p": "p.Arg471Gln",
"transcript": "ENST00000871568.1",
"protein_id": "ENSP00000541627.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 509,
"cds_start": 1412,
"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": "R",
"aa_alt": "Q",
"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.1250G>A",
"hgvs_p": "p.Arg417Gln",
"transcript": "ENST00000930028.1",
"protein_id": "ENSP00000600087.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 455,
"cds_start": 1250,
"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": "R",
"aa_alt": "Q",
"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.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000871565.1",
"protein_id": "ENSP00000541624.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 434,
"cds_start": 1187,
"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": "R",
"aa_alt": "Q",
"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.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000930027.1",
"protein_id": "ENSP00000600086.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 366,
"cds_start": 983,
"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": "R",
"aa_alt": "Q",
"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.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "XM_005253944.5",
"protein_id": "XP_005254001.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 633,
"cds_start": 1784,
"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": "R",
"aa_alt": "Q",
"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.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "XM_017019992.2",
"protein_id": "XP_016875481.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 538,
"cds_start": 1499,
"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": "R",
"aa_alt": "Q",
"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.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "XM_047429622.1",
"protein_id": "XP_047285578.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 443,
"cds_start": 1214,
"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": "R",
"aa_alt": "Q",
"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.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "XM_047429623.1",
"protein_id": "XP_047285579.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 305,
"cds_start": 800,
"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.110-4863C>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.548-4863C>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.*22G>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": "rs145317226",
"frequency_reference_population": 0.000014251211,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000143651,
"gnomad_genomes_af": 0.0000131556,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5580297708511353,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.1811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.296,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006768.5",
"gene_symbol": "BRAP",
"hgnc_id": 1099,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000726948.1",
"gene_symbol": "ATXN2-AS",
"hgnc_id": 51838,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.110-4863C>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
}