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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: 1-154708026-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154708026&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154708026,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000271915.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2146G>T",
"hgvs_p": "p.Val716Phe",
"transcript": "NM_002249.6",
"protein_id": "NP_002240.3",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 731,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "ENST00000271915.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2146G>T",
"hgvs_p": "p.Val716Phe",
"transcript": "ENST00000271915.9",
"protein_id": "ENSP00000271915.3",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 731,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "NM_002249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1231G>T",
"hgvs_p": "p.Val411Phe",
"transcript": "ENST00000361147.8",
"protein_id": "ENSP00000354764.4",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 426,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1207G>T",
"hgvs_p": "p.Val403Phe",
"transcript": "ENST00000358505.2",
"protein_id": "ENSP00000351295.2",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 418,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "NM_001204087.2",
"protein_id": "NP_001191016.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 746,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 13079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "ENST00000618040.4",
"protein_id": "ENSP00000481848.1",
"transcript_support_level": 5,
"aa_start": 731,
"aa_end": null,
"aa_length": 746,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 13057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1252G>T",
"hgvs_p": "p.Val418Phe",
"transcript": "NM_001365837.1",
"protein_id": "NP_001352766.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 433,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 11944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1231G>T",
"hgvs_p": "p.Val411Phe",
"transcript": "NM_170782.3",
"protein_id": "NP_740752.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 426,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 11966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1207G>T",
"hgvs_p": "p.Val403Phe",
"transcript": "NM_001365838.1",
"protein_id": "NP_001352767.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 418,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 11899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "n.200+1G>T",
"hgvs_p": null,
"transcript": "ENST00000515643.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"dbsnp": "rs764160677",
"frequency_reference_population": 0.00007314609,
"hom_count_reference_population": 0,
"allele_count_reference_population": 118,
"gnomad_exomes_af": 0.0000746034,
"gnomad_genomes_af": 0.0000591522,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10904723405838013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1455,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.255,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000271915.9",
"gene_symbol": "KCNN3",
"hgnc_id": 6292,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2146G>T",
"hgvs_p": "p.Val716Phe"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}