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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: 8-132129551-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132129551&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132129551,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000388996.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2330G>C",
"hgvs_p": "p.Arg777Pro",
"transcript": "NM_004519.4",
"protein_id": "NP_004510.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 872,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "ENST00000388996.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2330G>C",
"hgvs_p": "p.Arg777Pro",
"transcript": "ENST00000388996.10",
"protein_id": "ENSP00000373648.3",
"transcript_support_level": 1,
"aa_start": 777,
"aa_end": null,
"aa_length": 872,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "NM_004519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Arg765Pro",
"transcript": "ENST00000519445.5",
"protein_id": "ENSP00000428790.1",
"transcript_support_level": 5,
"aa_start": 765,
"aa_end": null,
"aa_length": 860,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1970G>C",
"hgvs_p": "p.Arg657Pro",
"transcript": "NM_001204824.2",
"protein_id": "NP_001191753.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 752,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1970G>C",
"hgvs_p": "p.Arg657Pro",
"transcript": "ENST00000521134.6",
"protein_id": "ENSP00000429799.1",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 752,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2003G>C",
"hgvs_p": "p.Arg668Pro",
"transcript": "ENST00000638588.1",
"protein_id": "ENSP00000491940.1",
"transcript_support_level": 5,
"aa_start": 668,
"aa_end": null,
"aa_length": 715,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Arg765Pro",
"transcript": "XM_047421769.1",
"protein_id": "XP_047277725.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 860,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.2108G>C",
"hgvs_p": "p.Arg703Pro",
"transcript": "XM_017013400.2",
"protein_id": "XP_016868889.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 798,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 14298,
"cdna_end": null,
"cdna_length": 22988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "c.1970G>C",
"hgvs_p": "p.Arg657Pro",
"transcript": "XM_011517026.3",
"protein_id": "XP_011515328.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 752,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 19983,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.3058G>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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.*954G>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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ3",
"gene_hgnc_id": 6297,
"hgvs_c": "n.*954G>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": "rs201328910",
"frequency_reference_population": 6.840497e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8405e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08678969740867615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.545,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000388996.10",
"gene_symbol": "KCNQ3",
"hgnc_id": 6297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2330G>C",
"hgvs_p": "p.Arg777Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}