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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: 7-150947670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150947670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150947670,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262186.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2901G>A",
"hgvs_p": "p.Pro967Pro",
"transcript": "NM_000238.4",
"protein_id": "NP_000229.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2901,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "ENST00000262186.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2901G>A",
"hgvs_p": "p.Pro967Pro",
"transcript": "ENST00000262186.10",
"protein_id": "ENSP00000262186.5",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2901,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "NM_000238.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1881G>A",
"hgvs_p": "p.Pro627Pro",
"transcript": "ENST00000330883.9",
"protein_id": "ENSP00000328531.4",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 819,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Arg931His",
"transcript": "XM_047420349.1",
"protein_id": "XP_047276305.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 936,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2835G>A",
"hgvs_p": "p.Pro945Pro",
"transcript": "ENST00000713710.1",
"protein_id": "ENSP00000519013.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2835,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2613G>A",
"hgvs_p": "p.Pro871Pro",
"transcript": "NM_001406753.1",
"protein_id": "NP_001393682.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2601G>A",
"hgvs_p": "p.Pro867Pro",
"transcript": "ENST00000713701.1",
"protein_id": "ENSP00000519004.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2601,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1881G>A",
"hgvs_p": "p.Pro627Pro",
"transcript": "NM_172057.3",
"protein_id": "NP_742054.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 819,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2979G>A",
"hgvs_p": "p.Pro993Pro",
"transcript": "XM_047420348.1",
"protein_id": "XP_047276304.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2979,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2751G>A",
"hgvs_p": "p.Pro917Pro",
"transcript": "XM_017012195.2",
"protein_id": "XP_016867684.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2751,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2724G>A",
"hgvs_p": "p.Pro908Pro",
"transcript": "XM_017012196.2",
"protein_id": "XP_016867685.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2724,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2601G>A",
"hgvs_p": "p.Pro867Pro",
"transcript": "XM_011516185.3",
"protein_id": "XP_011514487.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2601,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.3734G>A",
"hgvs_p": null,
"transcript": "ENST00000684241.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.3122G>A",
"hgvs_p": null,
"transcript": "NR_176254.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1995G>A",
"hgvs_p": null,
"transcript": "NR_176255.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"dbsnp": "rs780481239",
"frequency_reference_population": 0.00003734023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000378092,
"gnomad_genomes_af": 0.0000328571,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.528,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000262186.10",
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2901G>A",
"hgvs_p": "p.Pro967Pro"
}
],
"clinvar_disease": "Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,Long QT syndrome 2,Short QT syndrome type 1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6",
"phenotype_combined": "Long QT syndrome|not provided|Cardiovascular phenotype|Cardiac arrhythmia|Short QT syndrome type 1;Long QT syndrome 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}