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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: 7-50031145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50031145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50031145,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007009.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "NM_007009.3",
"protein_id": "NP_008940.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 351,
"cds_start": 653,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "ENST00000046087.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "ENST00000046087.7",
"protein_id": "ENSP00000046087.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 351,
"cds_start": 653,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "NM_007009.3",
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000419417.5",
"protein_id": "ENSP00000402071.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 350,
"cds_start": 650,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1095,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "NM_001159878.2",
"protein_id": "NP_001153350.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 350,
"cds_start": 650,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1192,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "XM_011515095.3",
"protein_id": "XP_011513397.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 374,
"cds_start": 653,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1197,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "XM_011515096.3",
"protein_id": "XP_011513398.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 373,
"cds_start": 650,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1194,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "XM_011515097.2",
"protein_id": "XP_011513399.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 365,
"cds_start": 653,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1304,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176His",
"transcript": "XM_011515100.3",
"protein_id": "XP_011513402.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 332,
"cds_start": 527,
"cds_end": null,
"cds_length": 999,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1071,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "XM_011515101.4",
"protein_id": "XP_011513403.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1044,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "XM_011515102.3",
"protein_id": "XP_011513404.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 300,
"cds_start": 431,
"cds_end": null,
"cds_length": 903,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1177,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "XM_024446645.2",
"protein_id": "XP_024302413.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 300,
"cds_start": 500,
"cds_end": null,
"cds_length": 903,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1042,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "XM_011515103.2",
"protein_id": "XP_011513405.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 261,
"cds_start": 653,
"cds_end": null,
"cds_length": 786,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1017,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "n.705G>A",
"hgvs_p": null,
"transcript": "XR_001744543.2",
"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": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "n.240+25040G>A",
"hgvs_p": null,
"transcript": "ENST00000491129.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"dbsnp": "rs761391635",
"frequency_reference_population": 0.000032844182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000348961,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10439908504486084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.299,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007009.3",
"gene_symbol": "ZPBP",
"hgnc_id": 15662,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}