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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: 7-150952650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150952650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000238.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 3269,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,Long QT syndrome 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "E",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 3480,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000238.4",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"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": "E",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "E",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 3480,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000262186.10",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"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": "E",
"aa_end": null,
"aa_length": 819,
"aa_ref": "E",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 613,
"cds_end": null,
"cds_length": 2460,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000330883.9",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Glu104Glu",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000461280.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "n.630G>A",
"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": "ENST00000461280.2",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "E",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 3414,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713710.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"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": "E",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "E",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 3192,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001406753.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Glu348Glu",
"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": "E",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 3180,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713701.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Glu344Glu",
"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": "E",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "E",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 3036,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945647.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Glu296Glu",
"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": "E",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "E",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 3027,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945646.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"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": "E",
"aa_end": null,
"aa_length": 888,
"aa_ref": "E",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_172056.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Glu444Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742053.1",
"strand": false,
"transcript": "NM_172056.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 829,
"aa_ref": "E",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1155,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406755.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Glu385Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393684.1",
"strand": false,
"transcript": "NM_001406755.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 819,
"aa_ref": "E",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 613,
"cds_end": null,
"cds_length": 2460,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_172057.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Glu104Glu",
"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": "E",
"aa_end": null,
"aa_length": 792,
"aa_ref": "E",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001406756.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Glu348Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393685.1",
"strand": false,
"transcript": "NM_001406756.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406757.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Glu344Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393686.1",
"strand": false,
"transcript": "NM_001406757.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 548,
"aa_ref": "E",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1647,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001204798.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Glu104Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191727.1",
"strand": false,
"transcript": "NM_001204798.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 3558,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420348.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1410G>A",
"hgvs_p": "p.Glu470Glu",
"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": "E",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "E",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 3330,
"cds_start": 1182,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017012195.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Glu394Glu",
"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": "E",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "E",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 3303,
"cds_start": 1155,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017012196.2",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Glu385Glu",
"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": "E",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 3180,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011516185.3",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Glu344Glu",
"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": "E",
"aa_end": null,
"aa_length": 936,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 2811,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420349.1",
"gene_hgnc_id": 6251,
"gene_symbol": "KCNH2",
"hgvs_c": "c.1410G>A",
"hgvs_p": "p.Glu470Glu",
"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": 2782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
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