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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: 1-222561466-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=222561466&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 222561466,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005681.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "NM_005681.4",
"protein_id": "NP_005672.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352967.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005681.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "ENST00000352967.9",
"protein_id": "ENSP00000327072.6",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005681.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352967.9"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Pro425Ala",
"transcript": "ENST00000972077.1",
"protein_id": "ENSP00000642136.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 495,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972077.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "NM_001201536.1",
"protein_id": "NP_001188465.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201536.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "ENST00000350027.8",
"protein_id": "ENSP00000339976.4",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350027.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "ENST00000925620.1",
"protein_id": "ENSP00000595679.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925620.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala",
"transcript": "ENST00000972078.1",
"protein_id": "ENSP00000642137.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 450,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972078.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1018C>G",
"hgvs_p": "p.Pro340Ala",
"transcript": "ENST00000925618.1",
"protein_id": "ENSP00000595677.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 410,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925618.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.Pro302Ala",
"transcript": "ENST00000925619.1",
"protein_id": "ENSP00000595678.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 372,
"cds_start": 904,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925619.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Pro266Ala",
"transcript": "NM_139352.2",
"protein_id": "NP_647603.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 336,
"cds_start": 796,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139352.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Pro266Ala",
"transcript": "ENST00000366890.5",
"protein_id": "ENSP00000355856.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 336,
"cds_start": 796,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366890.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Pro342Ala",
"transcript": "XM_006711612.2",
"protein_id": "XP_006711675.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 412,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711612.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Pro266Ala",
"transcript": "XM_047433593.1",
"protein_id": "XP_047289549.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 336,
"cds_start": 796,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433593.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Pro266Ala",
"transcript": "XM_047433596.1",
"protein_id": "XP_047289552.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 336,
"cds_start": 796,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "n.1347C>G",
"hgvs_p": null,
"transcript": "XR_007064851.1",
"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": "XR_007064851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"hgvs_c": "n.1233C>G",
"hgvs_p": null,
"transcript": "XR_007064852.1",
"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": "XR_007064852.1"
}
],
"gene_symbol": "TAF1A",
"gene_hgnc_id": 11532,
"dbsnp": "rs1659912774",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7913236618041992,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3548,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.816,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005681.4",
"gene_symbol": "TAF1A",
"hgnc_id": 11532,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Pro380Ala"
}
],
"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
}