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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: 19-50041811-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50041811&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50041811,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015428.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "NM_015428.4",
"protein_id": "NP_056243.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 871,
"cds_start": 218,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "ENST00000270617.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000270617.8",
"protein_id": "ENSP00000270617.3",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 871,
"cds_start": 218,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "NM_015428.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000391821.6",
"protein_id": "ENSP00000375697.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 871,
"cds_start": 218,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "NM_001006656.4",
"protein_id": "NP_001006657.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 871,
"cds_start": 218,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000595661.5",
"protein_id": "ENSP00000472808.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 871,
"cds_start": 218,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "NM_001308424.3",
"protein_id": "NP_001295353.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 859,
"cds_start": 182,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000445728.7",
"protein_id": "ENSP00000388961.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 859,
"cds_start": 182,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000599155.1",
"protein_id": "ENSP00000470862.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 101,
"cds_start": 218,
"cds_end": null,
"cds_length": 307,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000601364.5",
"protein_id": "ENSP00000471595.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 77,
"cds_start": 218,
"cds_end": null,
"cds_length": 234,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile",
"transcript": "ENST00000598809.5",
"protein_id": "ENSP00000470956.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 73,
"cds_start": 218,
"cds_end": null,
"cds_length": 224,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 605,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "n.*83C>T",
"hgvs_p": null,
"transcript": "ENST00000594968.1",
"protein_id": "ENSP00000472687.1",
"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": 475,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "n.720C>T",
"hgvs_p": null,
"transcript": "ENST00000598802.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298681",
"gene_hgnc_id": null,
"hgvs_c": "n.281G>A",
"hgvs_p": null,
"transcript": "ENST00000757245.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473-AS1",
"gene_hgnc_id": 58330,
"hgvs_c": "n.1103G>A",
"hgvs_p": null,
"transcript": "XR_007067294.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473-AS1",
"gene_hgnc_id": 58330,
"hgvs_c": "n.1122G>A",
"hgvs_p": null,
"transcript": "XR_007067295.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"hgvs_c": "n.*83C>T",
"hgvs_p": null,
"transcript": "ENST00000594968.1",
"protein_id": "ENSP00000472687.1",
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF473",
"gene_hgnc_id": 23239,
"dbsnp": "rs944080625",
"frequency_reference_population": 0.0000037213779,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273946,
"gnomad_genomes_af": 0.0000131437,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09900519251823425,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.1632,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.097,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015428.4",
"gene_symbol": "ZNF473",
"hgnc_id": 23239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000757245.1",
"gene_symbol": "ENSG00000298681",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.281G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067294.1",
"gene_symbol": "ZNF473-AS1",
"hgnc_id": 58330,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1103G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}