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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: 7-150947341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150947341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP2",
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000238.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,PP3,BS2",
"acmg_score": -2,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.117,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiac arrhythmia,Long QT syndrome,Long QT syndrome 2,Short QT syndrome type 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000038963542465353385,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000238.4",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262186.10",
"protein_coding": true,
"protein_id": "NP_000229.1",
"strand": false,
"transcript": "NM_000238.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000262186.10",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000238.4",
"protein_coding": true,
"protein_id": "ENSP00000262186.5",
"strand": false,
"transcript": "ENST00000262186.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 819,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000330883.9",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328531.4",
"strand": false,
"transcript": "ENST00000330883.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 3416,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3073,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000713710.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.3073C>T",
"hgvs_p": "p.Arg1025Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519013.1",
"strand": false,
"transcript": "ENST00000713710.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "R",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 3152,
"cds_end": null,
"cds_length": 3192,
"cds_start": 2851,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406753.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393682.1",
"strand": false,
"transcript": "NM_001406753.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000713701.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519004.1",
"strand": false,
"transcript": "ENST00000713701.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 3069,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945647.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2695C>T",
"hgvs_p": "p.Arg899Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615706.1",
"strand": false,
"transcript": "ENST00000945647.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "R",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 3167,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945646.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2686C>T",
"hgvs_p": "p.Arg896Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615705.1",
"strand": false,
"transcript": "ENST00000945646.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 819,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_172057.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742054.1",
"strand": false,
"transcript": "NM_172057.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047420348.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.3217C>T",
"hgvs_p": "p.Arg1073Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276304.1",
"strand": false,
"transcript": "XM_047420348.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "R",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 3621,
"cds_end": null,
"cds_length": 3330,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017012195.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2989C>T",
"hgvs_p": "p.Arg997Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867684.1",
"strand": false,
"transcript": "XM_017012195.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "R",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 3080,
"cds_end": null,
"cds_length": 3303,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017012196.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Arg988Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867685.1",
"strand": false,
"transcript": "XM_017012196.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011516185.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514487.1",
"strand": false,
"transcript": "XM_011516185.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684241.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.3972C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_176254.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.3360C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_176254.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_176255.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.2233C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_176255.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 936,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": null,
"cds_end": null,
"cds_length": 2811,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420349.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.*219C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276305.1",
"strand": true,
"transcript": "XM_047420349.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377095107",
"effect": "missense_variant",
"frequency_reference_population": 0.000010369598,
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"gnomad_exomes_ac": 14,
"gnomad_exomes_af": 0.0000100655,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131511,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2|Cardiac arrhythmia",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.424,
"pos": 150947341,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.622,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000238.4"
}
]
}