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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: 9-114091916-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114091916&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114091916,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001388308.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1900delC",
"hgvs_p": "p.Gln634fs",
"transcript": "NM_001388308.1",
"protein_id": "NP_001375237.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 651,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640217.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388308.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1900delC",
"hgvs_p": "p.Gln634fs",
"transcript": "ENST00000640217.2",
"protein_id": "ENSP00000491702.1",
"transcript_support_level": 5,
"aa_start": 634,
"aa_end": null,
"aa_length": 651,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388308.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640217.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "n.1724delC",
"hgvs_p": null,
"transcript": "ENST00000640553.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000640553.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1795delC",
"hgvs_p": "p.Gln599fs",
"transcript": "ENST00000905877.1",
"protein_id": "ENSP00000575936.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 616,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905877.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1486delC",
"hgvs_p": "p.Gln496fs",
"transcript": "NM_138424.2",
"protein_id": "NP_612433.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 513,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138424.2"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.222delC",
"hgvs_p": "p.Ser75fs",
"transcript": "ENST00000643988.1",
"protein_id": "ENSP00000495410.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 103,
"cds_start": 222,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643988.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1920delC",
"hgvs_p": "p.Ser641fs",
"transcript": "XM_005251683.6",
"protein_id": "XP_005251740.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 669,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251683.6"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1818delC",
"hgvs_p": "p.Ser607fs",
"transcript": "XM_006716947.3",
"protein_id": "XP_006717010.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 635,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716947.3"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1506delC",
"hgvs_p": "p.Ser503fs",
"transcript": "XM_047422709.1",
"protein_id": "XP_047278665.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 531,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422709.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1486delC",
"hgvs_p": "p.Gln496fs",
"transcript": "XM_047422710.1",
"protein_id": "XP_047278666.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 513,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422710.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.1125delC",
"hgvs_p": "p.Ser376fs",
"transcript": "XM_047422711.1",
"protein_id": "XP_047278667.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 404,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422711.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "c.301+1312delC",
"hgvs_p": null,
"transcript": "ENST00000498016.1",
"protein_id": "ENSP00000491090.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"hgvs_c": "n.2285delC",
"hgvs_p": null,
"transcript": "ENST00000639832.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000639832.1"
}
],
"gene_symbol": "KIF12",
"gene_hgnc_id": 21495,
"dbsnp": "rs776506245",
"frequency_reference_population": 0.00008803658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000931104,
"gnomad_genomes_af": 0.0000393871,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.158,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001388308.1",
"gene_symbol": "KIF12",
"hgnc_id": 21495,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1900delC",
"hgvs_p": "p.Gln634fs"
}
],
"clinvar_disease": " 8, progressive familial intrahepatic,Cholestasis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Cholestasis, progressive familial intrahepatic, 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}