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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: 1-40833111-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40833111&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40833111,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000347132.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ile537Met",
"transcript": "NM_004700.4",
"protein_id": "NP_004691.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 695,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": "ENST00000347132.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ile537Met",
"transcript": "ENST00000347132.10",
"protein_id": "ENSP00000262916.6",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 695,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": "NM_004700.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Ile483Met",
"transcript": "NM_172163.3",
"protein_id": "NP_751895.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 641,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Ile483Met",
"transcript": "ENST00000509682.6",
"protein_id": "ENSP00000423756.2",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 641,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1191C>G",
"hgvs_p": "p.Ile397Met",
"transcript": "ENST00000443478.3",
"protein_id": "ENSP00000406735.3",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 555,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ile537Met",
"transcript": "XM_047434057.1",
"protein_id": "XP_047290013.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 687,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "c.594C>G",
"hgvs_p": "p.Ile198Met",
"transcript": "XM_017002792.2",
"protein_id": "XP_016858281.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 356,
"cds_start": 594,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "n.930C>G",
"hgvs_p": null,
"transcript": "ENST00000506017.1",
"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": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "n.1371C>G",
"hgvs_p": null,
"transcript": "XR_007064876.1",
"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": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"hgvs_c": "n.1371C>G",
"hgvs_p": null,
"transcript": "XR_007064877.1",
"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": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNQ4",
"gene_hgnc_id": 6298,
"dbsnp": "rs876657837",
"frequency_reference_population": 0.000007455667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000754824,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4021812081336975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1120000034570694,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.501,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.787,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0126265587763817,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347132.10",
"gene_symbol": "KCNQ4",
"hgnc_id": 6298,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ile537Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}