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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: 5-157052557-C-CGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=157052557&ref=C&alt=CGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 157052557,
"ref": "C",
"alt": "CGT",
"effect": "frameshift_variant",
"transcript": "ENST00000523175.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "NM_001173393.3",
"protein_id": "NP_001166864.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": "ENST00000523175.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "ENST00000523175.6",
"protein_id": "ENSP00000427898.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": "NM_001173393.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "ENST00000339252.8",
"protein_id": "ENSP00000344844.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "NM_001308156.2",
"protein_id": "NP_001295085.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "ENST00000522693.5",
"protein_id": "ENSP00000428524.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "NM_012206.3",
"protein_id": "NP_036338.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "ENST00000698790.1",
"protein_id": "ENSP00000513932.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 316,
"cds_start": 476,
"cds_end": null,
"cds_length": 952,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "ENST00000699093.1",
"protein_id": "ENSP00000514125.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 316,
"cds_start": 476,
"cds_end": null,
"cds_length": 952,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446019.2",
"protein_id": "XP_024301787.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446020.2",
"protein_id": "XP_024301788.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446021.2",
"protein_id": "XP_024301789.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446022.2",
"protein_id": "XP_024301790.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446023.2",
"protein_id": "XP_024301791.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 401,
"cds_start": 476,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_017009339.3",
"protein_id": "XP_016864828.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 400,
"cds_start": 476,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_024446024.2",
"protein_id": "XP_024301792.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_047417096.1",
"protein_id": "XP_047273052.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
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"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_047417097.1",
"protein_id": "XP_047273053.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 476,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs",
"transcript": "XM_047417098.1",
"protein_id": "XP_047273054.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 363,
"cds_start": 476,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"hgvs_c": "c.4_5dupAC",
"hgvs_p": "p.Thr3fs",
"transcript": "XM_011534515.3",
"protein_id": "XP_011532817.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 244,
"cds_start": 5,
"cds_end": null,
"cds_length": 735,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HAVCR1",
"gene_hgnc_id": 17866,
"dbsnp": "rs77147640",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.344,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523175.6",
"gene_symbol": "HAVCR1",
"hgnc_id": 17866,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475_476dupAC",
"hgvs_p": "p.Thr160fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}