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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: 7-150948478-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150948478&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"hgvs_c": "c.2657dupA",
"hgvs_p": "p.Arg887fs",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000238.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Long QT syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "K",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2657,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000238.4",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2657dupA",
"hgvs_p": "p.Arg887fs",
"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": "K?",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "K",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2657,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000262186.10",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2657dupA",
"hgvs_p": "p.Arg887fs",
"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": "K?",
"aa_end": null,
"aa_length": 819,
"aa_ref": "K",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1637,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000330883.9",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1637dupA",
"hgvs_p": "p.Arg547fs",
"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": "K?",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "K",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2591,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713710.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2591dupA",
"hgvs_p": "p.Arg865fs",
"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": "K?",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "K",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 2670,
"cds_end": null,
"cds_length": 3192,
"cds_start": 2369,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406753.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2369dupA",
"hgvs_p": "p.Arg791fs",
"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": "K?",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "K",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2357,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713701.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2357dupA",
"hgvs_p": "p.Arg787fs",
"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": "K?",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "K",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2213,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945647.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2213dupA",
"hgvs_p": "p.Arg739fs",
"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": "K?",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "K",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2204,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945646.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2204dupA",
"hgvs_p": "p.Arg736fs",
"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": "K?",
"aa_end": null,
"aa_length": 819,
"aa_ref": "K",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1637,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_172057.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1637dupA",
"hgvs_p": "p.Arg547fs",
"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": "K?",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "K",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 3558,
"cds_start": 2735,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047420348.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2735dupA",
"hgvs_p": "p.Arg913fs",
"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": "K?",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "K",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 3139,
"cds_end": null,
"cds_length": 3330,
"cds_start": 2507,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017012195.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2507dupA",
"hgvs_p": "p.Arg837fs",
"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": "K?",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "K",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 3303,
"cds_start": 2480,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017012196.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2480dupA",
"hgvs_p": "p.Arg828fs",
"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": "K?",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "K",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2357,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011516185.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2357dupA",
"hgvs_p": "p.Arg787fs",
"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": "K?",
"aa_end": null,
"aa_length": 936,
"aa_ref": "K",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2735,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047420349.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.2735dupA",
"hgvs_p": "p.Arg913fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276305.1",
"strand": false,
"transcript": "XM_047420349.1",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000684241.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.3490dupA",
"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": 11,
"exon_rank_end": null,
"feature": "NR_176254.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.3065dupA",
"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": 7,
"exon_rank_end": null,
"feature": "NR_176255.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.1938dupA",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1554424671",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Long QT syndrome",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.546,
"pos": 150948478,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000238.4"
}
]
}