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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: 18-74634921-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74634921&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 74634921,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000299687.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "NM_017757.3",
"protein_id": "NP_060227.2",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2248,
"cds_start": 3902,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 8071,
"mane_select": "ENST00000299687.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "ENST00000299687.10",
"protein_id": "ENSP00000299687.4",
"transcript_support_level": 1,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2248,
"cds_start": 3902,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 8071,
"mane_select": "NM_017757.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "NM_001384475.1",
"protein_id": "NP_001371404.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2248,
"cds_start": 3902,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5082,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "NM_001146189.1",
"protein_id": "NP_001139661.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1815,
"cds_start": 3902,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "ENST00000577538.5",
"protein_id": "ENSP00000463270.1",
"transcript_support_level": 2,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1815,
"cds_start": 3902,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "NM_001146190.1",
"protein_id": "NP_001139662.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "ENST00000309902.10",
"protein_id": "ENSP00000310359.5",
"transcript_support_level": 2,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "ENST00000582337.5",
"protein_id": "ENSP00000462348.1",
"transcript_support_level": 5,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "XM_017025838.3",
"protein_id": "XP_016881327.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1750,
"cds_start": 3902,
"cds_end": null,
"cds_length": 5253,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "XM_011526069.4",
"protein_id": "XP_011524371.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1688,
"cds_start": 3902,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "XM_011526070.3",
"protein_id": "XP_011524372.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu",
"transcript": "XM_006722500.5",
"protein_id": "XP_006722563.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1630,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF407",
"gene_hgnc_id": 19904,
"dbsnp": "rs750218080",
"frequency_reference_population": 0.00001436815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000143682,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14838725328445435,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
"alphamissense_score": 0.0874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.096,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000299687.10",
"gene_symbol": "ZNF407",
"hgnc_id": 19904,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Pro1301Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}