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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: 18-74881076-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74881076&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ZNF407",
"hgnc_id": 19904,
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_017757.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 6003,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8071,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 6747,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_017757.3",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299687.10",
"protein_coding": true,
"protein_id": "NP_060227.2",
"strand": true,
"transcript": "NM_017757.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8071,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 6747,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000299687.10",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017757.3",
"protein_coding": true,
"protein_id": "ENSP00000299687.4",
"strand": true,
"transcript": "ENST00000299687.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2248,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9130,
"cdna_start": 6265,
"cds_end": null,
"cds_length": 6747,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384475.1",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371404.1",
"strand": true,
"transcript": "NM_001384475.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1815,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5851,
"cdna_start": 5142,
"cds_end": null,
"cds_length": 5448,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001146189.1",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139661.1",
"strand": true,
"transcript": "NM_001146189.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1815,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": 5085,
"cds_end": null,
"cds_length": 5448,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000577538.5",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463270.1",
"strand": true,
"transcript": "ENST00000577538.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "G",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": 3527,
"cds_end": null,
"cds_length": 5103,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949102.1",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Gly1147Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619161.1",
"strand": true,
"transcript": "ENST00000949102.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 718,
"aa_ref": "G",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2157,
"cds_start": 495,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949101.1",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Gly165Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619160.1",
"strand": true,
"transcript": "ENST00000949101.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": 200,
"cds_end": null,
"cds_length": 411,
"cds_start": 198,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000581829.2",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Gly66Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479246.1",
"strand": true,
"transcript": "ENST00000581829.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 129,
"aa_ref": "G",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 207,
"cds_end": null,
"cds_length": 390,
"cds_start": 207,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584235.5",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.207C>T",
"hgvs_p": "p.Gly69Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481798.1",
"strand": true,
"transcript": "ENST00000584235.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1750,
"aa_ref": "G",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5460,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 5253,
"cds_start": 5085,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017025838.3",
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"hgvs_c": "c.5085C>T",
"hgvs_p": "p.Gly1695Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881327.1",
"strand": true,
"transcript": "XM_017025838.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs34940122",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0038553774,
"gene_hgnc_id": 19904,
"gene_symbol": "ZNF407",
"gnomad_exomes_ac": 3001,
"gnomad_exomes_af": 0.00213604,
"gnomad_exomes_homalt": 107,
"gnomad_genomes_ac": 3002,
"gnomad_genomes_af": 0.019736,
"gnomad_genomes_homalt": 101,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 208,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.265,
"pos": 74881076,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017757.3"
}
]
}