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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: 8-132129843-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132129843&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132129843,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000388996.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"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.2038T>G",
"hgvs_p": "p.Leu680Val",
"transcript": "NM_004519.4",
"protein_id": "NP_004510.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 872,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "ENST00000388996.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.2038T>G",
"hgvs_p": "p.Leu680Val",
"transcript": "ENST00000388996.10",
"protein_id": "ENSP00000373648.3",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 872,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": "NM_004519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.2002T>G",
"hgvs_p": "p.Leu668Val",
"transcript": "ENST00000519445.5",
"protein_id": "ENSP00000428790.1",
"transcript_support_level": 5,
"aa_start": 668,
"aa_end": null,
"aa_length": 860,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1678T>G",
"hgvs_p": "p.Leu560Val",
"transcript": "NM_001204824.2",
"protein_id": "NP_001191753.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 752,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 10696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1678T>G",
"hgvs_p": "p.Leu560Val",
"transcript": "ENST00000521134.6",
"protein_id": "ENSP00000429799.1",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 752,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1711T>G",
"hgvs_p": "p.Leu571Val",
"transcript": "ENST00000638588.1",
"protein_id": "ENSP00000491940.1",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 715,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.2002T>G",
"hgvs_p": "p.Leu668Val",
"transcript": "XM_047421769.1",
"protein_id": "XP_047277725.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 860,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1816T>G",
"hgvs_p": "p.Leu606Val",
"transcript": "XM_017013400.2",
"protein_id": "XP_016868889.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 798,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 14006,
"cdna_end": null,
"cdna_length": 22988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1678T>G",
"hgvs_p": "p.Leu560Val",
"transcript": "XM_011517026.3",
"protein_id": "XP_011515328.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 752,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 19691,
"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.2766T>G",
"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.*662T>G",
"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.*662T>G",
"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": "rs1223253841",
"frequency_reference_population": 0.00001026069,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04639825224876404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.0876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.198,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000388996.10",
"gene_symbol": "KCNQ3",
"hgnc_id": 6297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2038T>G",
"hgvs_p": "p.Leu680Val"
}
],
"clinvar_disease": "Benign neonatal seizures",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Benign neonatal seizures",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}