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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: 6-73133443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73133443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73133443,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000370398.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_019842.4",
"protein_id": "NP_062816.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 932,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "ENST00000370398.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000370398.6",
"protein_id": "ENSP00000359425.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 932,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "NM_019842.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415*",
"transcript": "ENST00000629977.2",
"protein_id": "ENSP00000485743.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 923,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443*",
"transcript": "NM_001160133.2",
"protein_id": "NP_001153605.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 951,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443*",
"transcript": "ENST00000342056.6",
"protein_id": "ENSP00000345055.2",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 951,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 6688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001160132.2",
"protein_id": "NP_001153604.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 942,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431*",
"transcript": "ENST00000355194.9",
"protein_id": "ENSP00000347326.5",
"transcript_support_level": 5,
"aa_start": 431,
"aa_end": null,
"aa_length": 939,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415*",
"transcript": "NM_001160130.2",
"protein_id": "NP_001153602.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 923,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "ENST00000427928.1",
"protein_id": "ENSP00000388098.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 96,
"cds_start": 43,
"cds_end": null,
"cds_length": 291,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "XM_047419077.1",
"protein_id": "XP_047275033.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 886,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415*",
"transcript": "XM_017011058.2",
"protein_id": "XP_016866547.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 496,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ5-AS1",
"gene_hgnc_id": 40323,
"hgvs_c": "n.1423G>A",
"hgvs_p": null,
"transcript": "ENST00000654657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1247+8931C>T",
"hgvs_p": null,
"transcript": "NM_001160134.2",
"protein_id": "NP_001153606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1247+8931C>T",
"hgvs_p": null,
"transcript": "ENST00000628967.2",
"protein_id": "ENSP00000486187.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCNQ5-AS1",
"gene_hgnc_id": 40323,
"hgvs_c": "n.511-1060G>A",
"hgvs_p": null,
"transcript": "ENST00000656650.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNQ5-AS1",
"gene_hgnc_id": 40323,
"hgvs_c": "n.577-1060G>A",
"hgvs_p": null,
"transcript": "ENST00000666538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ5-AS1",
"gene_hgnc_id": 40323,
"hgvs_c": "n.91-1060G>A",
"hgvs_p": null,
"transcript": "ENST00000837885.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"hgvs_c": "c.1220+12866C>T",
"hgvs_p": null,
"transcript": "XM_024446493.2",
"protein_id": "XP_024302261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNQ5",
"gene_hgnc_id": 6299,
"dbsnp": "rs1554213240",
"frequency_reference_population": 0.000006575746,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657575,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32600000500679016,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.684,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370398.6",
"gene_symbol": "KCNQ5",
"hgnc_id": 6299,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000654657.1",
"gene_symbol": "KCNQ5-AS1",
"hgnc_id": 40323,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1423G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}