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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: 12-21766143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21766143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21766143,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004982.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "NM_004982.4",
"protein_id": "NP_004973.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000240662.3",
"protein_id": "ENSP00000240662.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.993G>A",
"hgvs_p": "p.Leu331Leu",
"transcript": "ENST00000859815.1",
"protein_id": "ENSP00000529874.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 470,
"cds_start": 993,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.993G>A",
"hgvs_p": "p.Leu331Leu",
"transcript": "ENST00000951731.1",
"protein_id": "ENSP00000621790.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 470,
"cds_start": 993,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000665145.1",
"protein_id": "ENSP00000499300.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000667884.1",
"protein_id": "ENSP00000499462.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859812.1",
"protein_id": "ENSP00000529871.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859813.1",
"protein_id": "ENSP00000529872.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859814.1",
"protein_id": "ENSP00000529873.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859816.1",
"protein_id": "ENSP00000529875.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859817.1",
"protein_id": "ENSP00000529876.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000859818.1",
"protein_id": "ENSP00000529877.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000951732.1",
"protein_id": "ENSP00000621791.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.855G>A",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000951733.1",
"protein_id": "ENSP00000621792.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 855,
"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.1001G>A",
"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.632-213C>T",
"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+6058C>T",
"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.227-213C>T",
"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+6058C>T",
"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": "rs34093632",
"frequency_reference_population": 0.0018573818,
"hom_count_reference_population": 66,
"allele_count_reference_population": 2998,
"gnomad_exomes_af": 0.00102404,
"gnomad_genomes_af": 0.00985969,
"gnomad_exomes_ac": 1497,
"gnomad_genomes_ac": 1501,
"gnomad_exomes_homalt": 36,
"gnomad_genomes_homalt": 30,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.027,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004982.4",
"gene_symbol": "KCNJ8",
"hgnc_id": 6269,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.855G>A",
"hgvs_p": "p.Leu285Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000716337.1",
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.632-213C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Brugada syndrome|Cardiovascular phenotype|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}