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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: 12-21773264-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21773264&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21773264,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004982.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "NM_004982.4",
"protein_id": "NP_004973.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240662.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004982.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000240662.3",
"protein_id": "ENSP00000240662.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004982.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240662.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859815.1",
"protein_id": "ENSP00000529874.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 470,
"cds_start": 353,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859815.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000951731.1",
"protein_id": "ENSP00000621790.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 470,
"cds_start": 353,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951731.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000665145.1",
"protein_id": "ENSP00000499300.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665145.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000667884.1",
"protein_id": "ENSP00000499462.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667884.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859812.1",
"protein_id": "ENSP00000529871.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859812.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859813.1",
"protein_id": "ENSP00000529872.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859813.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859814.1",
"protein_id": "ENSP00000529873.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859814.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859816.1",
"protein_id": "ENSP00000529875.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859816.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859817.1",
"protein_id": "ENSP00000529876.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859817.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000859818.1",
"protein_id": "ENSP00000529877.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859818.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000951732.1",
"protein_id": "ENSP00000621791.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951732.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000951733.1",
"protein_id": "ENSP00000621792.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "n.499C>T",
"hgvs_p": null,
"transcript": "ENST00000657855.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000657855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ8-AS1",
"gene_hgnc_id": 58193,
"hgvs_c": "n.629-51G>A",
"hgvs_p": null,
"transcript": "ENST00000716338.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000716338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ8-AS1",
"gene_hgnc_id": 58193,
"hgvs_c": "n.631+13179G>A",
"hgvs_p": null,
"transcript": "XR_007063241.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007063241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.*11C>T",
"hgvs_p": null,
"transcript": "ENST00000537950.1",
"protein_id": "ENSP00000440012.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537950.1"
}
],
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"dbsnp": "rs770087869",
"frequency_reference_population": 0.000011775351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109486,
"gnomad_genomes_af": 0.0000197148,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2718485891819,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.1099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.723,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004982.4",
"gene_symbol": "KCNJ8",
"hgnc_id": 6269,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000716338.1",
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.629-51G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome,Brugada syndrome 1,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Brugada syndrome 1|Cardiovascular phenotype|Brugada syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}