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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: 12-21765753-TGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21765753&ref=TGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21765753,
"ref": "TGG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_004982.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "NM_004982.4",
"protein_id": "NP_004973.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000240662.3",
"protein_id": "ENSP00000240662.2",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1381_1382delCC",
"hgvs_p": "p.Pro461fs",
"transcript": "ENST00000859815.1",
"protein_id": "ENSP00000529874.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 470,
"cds_start": 1381,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1381_1382delCC",
"hgvs_p": "p.Pro461fs",
"transcript": "ENST00000951731.1",
"protein_id": "ENSP00000621790.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 470,
"cds_start": 1381,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000665145.1",
"protein_id": "ENSP00000499300.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000667884.1",
"protein_id": "ENSP00000499462.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859812.1",
"protein_id": "ENSP00000529871.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859813.1",
"protein_id": "ENSP00000529872.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859814.1",
"protein_id": "ENSP00000529873.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859816.1",
"protein_id": "ENSP00000529875.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859817.1",
"protein_id": "ENSP00000529876.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000859818.1",
"protein_id": "ENSP00000529877.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000951732.1",
"protein_id": "ENSP00000621791.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs",
"transcript": "ENST00000951733.1",
"protein_id": "ENSP00000621792.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1243,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"hgvs_c": "n.1389_1390delCC",
"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.632-602_632-601delGG",
"hgvs_p": null,
"transcript": "ENST00000716337.1",
"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": "ENST00000716337.1"
},
{
"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.628+5669_628+5670delGG",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ8-AS1",
"gene_hgnc_id": 58193,
"hgvs_c": "n.227-602_227-601delGG",
"hgvs_p": null,
"transcript": "ENST00000716339.1",
"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": "ENST00000716339.1"
},
{
"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+5669_631+5670delGG",
"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"
}
],
"gene_symbol": "KCNJ8",
"gene_hgnc_id": 6269,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.208,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004982.4",
"gene_symbol": "KCNJ8",
"hgnc_id": 6269,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1243_1244delCC",
"hgvs_p": "p.Pro415fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000716337.1",
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.632-602_632-601delGG",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Brugada syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}