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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: X-46500464-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=46500464&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 46500464,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000683375.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1110T>G",
"hgvs_p": "p.His370Gln",
"transcript": "NM_001190417.2",
"protein_id": "NP_001177346.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 576,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": "ENST00000683375.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1110T>G",
"hgvs_p": "p.His370Gln",
"transcript": "ENST00000683375.1",
"protein_id": "ENSP00000506769.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 576,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": "NM_001190417.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"transcript": "ENST00000523374.5",
"protein_id": "ENSP00000429148.1",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 581,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"transcript": "NM_001039891.3",
"protein_id": "NP_001034980.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 581,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1107T>G",
"hgvs_p": "p.His369Gln",
"transcript": "NM_001146291.2",
"protein_id": "NP_001139763.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 575,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1107T>G",
"hgvs_p": "p.His369Gln",
"transcript": "ENST00000414387.6",
"protein_id": "ENSP00000428248.1",
"transcript_support_level": 3,
"aa_start": 369,
"aa_end": null,
"aa_length": 575,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"hgvs_c": "c.1122T>G",
"hgvs_p": "p.His374Gln",
"transcript": "XM_011543943.4",
"protein_id": "XP_011542245.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 580,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"dbsnp": "rs142411452",
"frequency_reference_population": 0.0006807369,
"hom_count_reference_population": 250,
"allele_count_reference_population": 824,
"gnomad_exomes_af": 0.000355199,
"gnomad_genomes_af": 0.0038586,
"gnomad_exomes_ac": 390,
"gnomad_genomes_ac": 434,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00712701678276062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.3365,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.831,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000683375.1",
"gene_symbol": "ZNF674",
"hgnc_id": 17625,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1110T>G",
"hgvs_p": "p.His370Gln"
}
],
"clinvar_disease": "ZNF674-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|ZNF674-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}