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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: 6-39303963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39303963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39303963,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031460.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Met",
"transcript": "NM_031460.4",
"protein_id": "NP_113648.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 332,
"cds_start": 682,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373231.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031460.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Met",
"transcript": "ENST00000373231.9",
"protein_id": "ENSP00000362328.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 332,
"cds_start": 682,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373231.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Met",
"transcript": "ENST00000884806.1",
"protein_id": "ENSP00000554865.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 365,
"cds_start": 781,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884806.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Val248Met",
"transcript": "ENST00000969858.1",
"protein_id": "ENSP00000639917.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 352,
"cds_start": 742,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969858.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "ENST00000884805.1",
"protein_id": "ENSP00000554864.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 336,
"cds_start": 694,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884805.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Val224Met",
"transcript": "ENST00000884807.1",
"protein_id": "ENSP00000554866.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 328,
"cds_start": 670,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884807.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Met",
"transcript": "NM_001135111.2",
"protein_id": "NP_001128583.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 271,
"cds_start": 682,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135111.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Met",
"transcript": "ENST00000453413.2",
"protein_id": "ENSP00000401271.2",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 271,
"cds_start": 682,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453413.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"hgvs_c": "n.*16G>A",
"hgvs_p": null,
"transcript": "ENST00000503878.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503878.1"
}
],
"gene_symbol": "KCNK17",
"gene_hgnc_id": 14465,
"dbsnp": "rs747266044",
"frequency_reference_population": 0.00002729349,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000287678,
"gnomad_genomes_af": 0.000013146,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3850260376930237,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.2194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.508,
"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": -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": "NM_031460.4",
"gene_symbol": "KCNK17",
"hgnc_id": 14465,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Met"
}
],
"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
}