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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: 12-111659253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111659253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111659253,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006768.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "NM_006768.5",
"protein_id": "NP_006759.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 592,
"cds_start": 1065,
"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": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "ENST00000419234.9",
"protein_id": "ENSP00000403524.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 592,
"cds_start": 1065,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Thr325Thr",
"transcript": "ENST00000327551.6",
"protein_id": "ENSP00000330813.5",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 562,
"cds_start": 975,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Thr342Thr",
"transcript": "ENST00000871570.1",
"protein_id": "ENSP00000541629.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 579,
"cds_start": 1026,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "ENST00000871569.1",
"protein_id": "ENSP00000541628.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 562,
"cds_start": 1065,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Thr317Thr",
"transcript": "ENST00000871567.1",
"protein_id": "ENSP00000541626.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 554,
"cds_start": 951,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Thr301Thr",
"transcript": "ENST00000871566.1",
"protein_id": "ENSP00000541625.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 538,
"cds_start": 903,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Thr280Thr",
"transcript": "ENST00000871571.1",
"protein_id": "ENSP00000541630.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 517,
"cds_start": 840,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.1188G>A",
"hgvs_p": "p.Thr396Thr",
"transcript": "XM_005253944.5",
"protein_id": "XP_005254001.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 633,
"cds_start": 1188,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Thr301Thr",
"transcript": "XM_017019992.2",
"protein_id": "XP_016875481.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 538,
"cds_start": 903,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Thr206Thr",
"transcript": "XM_047429622.1",
"protein_id": "XP_047285578.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 443,
"cds_start": 618,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.204G>A",
"hgvs_p": "p.Thr68Thr",
"transcript": "XM_047429623.1",
"protein_id": "XP_047285579.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 305,
"cds_start": 204,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.972+1347G>A",
"hgvs_p": null,
"transcript": "ENST00000871568.1",
"protein_id": "ENSP00000541627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.810+1347G>A",
"hgvs_p": null,
"transcript": "ENST00000930028.1",
"protein_id": "ENSP00000600087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.748-3598G>A",
"hgvs_p": null,
"transcript": "ENST00000871565.1",
"protein_id": "ENSP00000541624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "c.634-9211G>A",
"hgvs_p": null,
"transcript": "ENST00000930027.1",
"protein_id": "ENSP00000600086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAP",
"gene_hgnc_id": 1099,
"hgvs_c": "n.969G>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": "rs151101195",
"frequency_reference_population": 0.0029849194,
"hom_count_reference_population": 10,
"allele_count_reference_population": 4818,
"gnomad_exomes_af": 0.00304824,
"gnomad_genomes_af": 0.00237711,
"gnomad_exomes_ac": 4456,
"gnomad_genomes_ac": 362,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.229,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006768.5",
"gene_symbol": "BRAP",
"hgnc_id": 1099,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}