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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: 7-149848130-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=149848130&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 149848130,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000223210.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.637T>G",
"hgvs_p": "p.Trp213Gly",
"transcript": "NM_001099220.3",
"protein_id": "NP_001092690.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1169,
"cds_start": 637,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 6942,
"mane_select": "ENST00000223210.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.637T>G",
"hgvs_p": "p.Trp213Gly",
"transcript": "ENST00000223210.5",
"protein_id": "ENSP00000223210.4",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 1169,
"cds_start": 637,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 6942,
"mane_select": "NM_001099220.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.679T>G",
"hgvs_p": "p.Trp227Gly",
"transcript": "XM_006716085.4",
"protein_id": "XP_006716148.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1183,
"cds_start": 679,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.679T>G",
"hgvs_p": "p.Trp227Gly",
"transcript": "XM_011516463.1",
"protein_id": "XP_011514765.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1183,
"cds_start": 679,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Trp220Gly",
"transcript": "XM_011516464.2",
"protein_id": "XP_011514766.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1176,
"cds_start": 658,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 6133,
"cdna_end": null,
"cdna_length": 12201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.616T>G",
"hgvs_p": "p.Trp206Gly",
"transcript": "XM_017012519.2",
"protein_id": "XP_016868008.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1162,
"cds_start": 616,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 8914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.385T>G",
"hgvs_p": "p.Trp129Gly",
"transcript": "XM_024446866.1",
"protein_id": "XP_024302634.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1085,
"cds_start": 385,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "n.4T>G",
"hgvs_p": null,
"transcript": "ENST00000488265.1",
"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": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"hgvs_c": "c.*106T>G",
"hgvs_p": null,
"transcript": "ENST00000460379.1",
"protein_id": "ENSP00000417450.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF862",
"gene_hgnc_id": 34519,
"dbsnp": "rs563616947",
"frequency_reference_population": 0.000031597418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000294176,
"gnomad_genomes_af": 0.000052512,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1463870108127594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.5312,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.098,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000223210.5",
"gene_symbol": "ZNF862",
"hgnc_id": 34519,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.637T>G",
"hgvs_p": "p.Trp213Gly"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}