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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-46500294-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=46500294&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 46500294,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000683375.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"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.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001190417.2",
"protein_id": "NP_001177346.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": "ENST00000683375.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000683375.1",
"protein_id": "ENSP00000506769.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": "NM_001190417.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1295A>G",
"hgvs_p": "p.His432Arg",
"transcript": "ENST00000523374.5",
"protein_id": "ENSP00000429148.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 581,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1295A>G",
"hgvs_p": "p.His432Arg",
"transcript": "NM_001039891.3",
"protein_id": "NP_001034980.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 581,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1277A>G",
"hgvs_p": "p.His426Arg",
"transcript": "NM_001146291.2",
"protein_id": "NP_001139763.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 575,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1277A>G",
"hgvs_p": "p.His426Arg",
"transcript": "ENST00000414387.6",
"protein_id": "ENSP00000428248.1",
"transcript_support_level": 3,
"aa_start": 426,
"aa_end": null,
"aa_length": 575,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1292A>G",
"hgvs_p": "p.His431Arg",
"transcript": "XM_011543943.4",
"protein_id": "XP_011542245.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 580,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF674",
"gene_hgnc_id": 17625,
"dbsnp": "rs200552019",
"frequency_reference_population": 0.0006679861,
"hom_count_reference_population": 239,
"allele_count_reference_population": 808,
"gnomad_exomes_af": 0.000347272,
"gnomad_genomes_af": 0.0037961,
"gnomad_exomes_ac": 381,
"gnomad_genomes_ac": 427,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0057187676429748535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.1295,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.779,
"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.1280A>G",
"hgvs_p": "p.His427Arg"
}
],
"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
}