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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: 8-132141203-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132141203&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132141203,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000388996.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1391T>C",
"hgvs_p": "p.Val464Ala",
"transcript": "NM_004519.4",
"protein_id": "NP_004510.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 872,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "ENST00000388996.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1391T>C",
"hgvs_p": "p.Val464Ala",
"transcript": "ENST00000388996.10",
"protein_id": "ENSP00000373648.3",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 872,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "NM_004519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1391T>C",
"hgvs_p": "p.Val464Ala",
"transcript": "ENST00000519445.5",
"protein_id": "ENSP00000428790.1",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 860,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1031T>C",
"hgvs_p": "p.Val344Ala",
"transcript": "NM_001204824.2",
"protein_id": "NP_001191753.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 752,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1031T>C",
"hgvs_p": "p.Val344Ala",
"transcript": "ENST00000521134.6",
"protein_id": "ENSP00000429799.1",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 752,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000638588.1",
"protein_id": "ENSP00000491940.1",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 715,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1391T>C",
"hgvs_p": "p.Val464Ala",
"transcript": "XM_047421769.1",
"protein_id": "XP_047277725.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 860,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1169T>C",
"hgvs_p": "p.Val390Ala",
"transcript": "XM_017013400.2",
"protein_id": "XP_016868889.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 798,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 13359,
"cdna_end": null,
"cdna_length": 22988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1031T>C",
"hgvs_p": "p.Val344Ala",
"transcript": "XM_011517026.3",
"protein_id": "XP_011515328.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 752,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 19044,
"cdna_end": null,
"cdna_length": 28673,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.1169T>C",
"hgvs_p": null,
"transcript": "ENST00000519589.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3464,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.*15T>C",
"hgvs_p": null,
"transcript": "ENST00000639496.1",
"protein_id": "ENSP00000491165.1",
"transcript_support_level": 5,
"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": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.*15T>C",
"hgvs_p": null,
"transcript": "ENST00000639496.1",
"protein_id": "ENSP00000491165.1",
"transcript_support_level": 5,
"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": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"dbsnp": "rs143664009",
"frequency_reference_population": 0.00017904892,
"hom_count_reference_population": 1,
"allele_count_reference_population": 289,
"gnomad_exomes_af": 0.000180591,
"gnomad_genomes_af": 0.000164242,
"gnomad_exomes_ac": 264,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08969902992248535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.386,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000388996.10",
"gene_symbol": "KCNQ3",
"hgnc_id": 6297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1391T>C",
"hgvs_p": "p.Val464Ala"
}
],
"clinvar_disease": "Benign neonatal seizures,Intellectual disability,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Benign neonatal seizures|Intellectual disability|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}