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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: 7-49983372-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=49983372&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 49983372,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_007009.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Gln311*",
"transcript": "NM_007009.3",
"protein_id": "NP_008940.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 351,
"cds_start": 931,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "ENST00000046087.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Gln311*",
"transcript": "ENST00000046087.7",
"protein_id": "ENSP00000046087.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 351,
"cds_start": 931,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "NM_007009.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Gln310*",
"transcript": "ENST00000419417.5",
"protein_id": "ENSP00000402071.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 350,
"cds_start": 928,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Gln310*",
"transcript": "NM_001159878.2",
"protein_id": "NP_001153350.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 350,
"cds_start": 928,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Gln311*",
"transcript": "XM_011515095.3",
"protein_id": "XP_011513397.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 374,
"cds_start": 931,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Gln310*",
"transcript": "XM_011515096.3",
"protein_id": "XP_011513398.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 373,
"cds_start": 928,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Gln311*",
"transcript": "XM_011515097.2",
"protein_id": "XP_011513399.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 365,
"cds_start": 931,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Gln269*",
"transcript": "XM_011515100.3",
"protein_id": "XP_011513402.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 332,
"cds_start": 805,
"cds_end": null,
"cds_length": 999,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Gln260*",
"transcript": "XM_011515101.4",
"protein_id": "XP_011513403.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 323,
"cds_start": 778,
"cds_end": null,
"cds_length": 972,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Gln237*",
"transcript": "XM_011515102.3",
"protein_id": "XP_011513404.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 300,
"cds_start": 709,
"cds_end": null,
"cds_length": 903,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Gln260*",
"transcript": "XM_024446645.2",
"protein_id": "XP_024302413.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 300,
"cds_start": 778,
"cds_end": null,
"cds_length": 903,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1042,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "n.388C>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "n.983C>T",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"hgvs_c": "c.783+34868C>T",
"hgvs_p": null,
"transcript": "XM_011515103.2",
"protein_id": "XP_011513405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZPBP",
"gene_hgnc_id": 15662,
"dbsnp": "rs2128782038",
"frequency_reference_population": 6.843362e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84336e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23999999463558197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.479,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007009.3",
"gene_symbol": "ZPBP",
"hgnc_id": 15662,
"effects": [
"stop_gained"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Gln311*"
}
],
"clinvar_disease": "Spermatogenic failure 66",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spermatogenic failure 66",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}