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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: 19-21536517-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=21536517&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF429",
"hgnc_id": 20817,
"hgvs_c": "c.464A>T",
"hgvs_p": "p.Tyr155Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001001415.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0995,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1299952268600464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 674,
"aa_ref": "Y",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 634,
"cds_end": null,
"cds_length": 2025,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001001415.4",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.464A>T",
"hgvs_p": "p.Tyr155Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358491.9",
"protein_coding": true,
"protein_id": "NP_001001415.2",
"strand": true,
"transcript": "NM_001001415.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 674,
"aa_ref": "Y",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 634,
"cds_end": null,
"cds_length": 2025,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358491.9",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.464A>T",
"hgvs_p": "p.Tyr155Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001415.4",
"protein_coding": true,
"protein_id": "ENSP00000351280.3",
"strand": true,
"transcript": "ENST00000358491.9",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 122,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": null,
"cds_end": null,
"cds_length": 369,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597078.5",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.227-5247A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470300.1",
"strand": true,
"transcript": "ENST00000597078.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5072,
"cdna_start": 921,
"cds_end": null,
"cds_length": 2019,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346912.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.458A>T",
"hgvs_p": "p.Tyr153Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333841.1",
"strand": true,
"transcript": "NM_001346912.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 661,
"aa_ref": "Y",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1986,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967842.1",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Tyr142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637901.1",
"strand": true,
"transcript": "ENST00000967842.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 642,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1929,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001346913.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.368A>T",
"hgvs_p": "p.Tyr123Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333842.1",
"strand": true,
"transcript": "NM_001346913.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 642,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5091,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1929,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346914.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.368A>T",
"hgvs_p": "p.Tyr123Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333843.1",
"strand": true,
"transcript": "NM_001346914.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 642,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1929,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001346915.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.368A>T",
"hgvs_p": "p.Tyr123Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333844.1",
"strand": true,
"transcript": "NM_001346915.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 610,
"aa_ref": "Y",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1833,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001346916.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.272A>T",
"hgvs_p": "p.Tyr91Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333845.1",
"strand": true,
"transcript": "NM_001346916.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 689,
"aa_ref": "Y",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 755,
"cds_end": null,
"cds_length": 2070,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017026748.3",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Tyr170Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882237.1",
"strand": true,
"transcript": "XM_017026748.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 689,
"aa_ref": "Y",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 2070,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047438765.1",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Tyr170Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294721.1",
"strand": true,
"transcript": "XM_047438765.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 642,
"aa_ref": "Y",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1929,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017026752.2",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "c.368A>T",
"hgvs_p": "p.Tyr123Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882241.1",
"strand": true,
"transcript": "XM_017026752.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000594022.1",
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"hgvs_c": "n.*18A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594022.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs375806784",
"effect": "missense_variant",
"frequency_reference_population": 0.0000037205564,
"gene_hgnc_id": 20817,
"gene_symbol": "ZNF429",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273896,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131361,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.108,
"pos": 21536517,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.025,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.14000000059604645,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.14,
"transcript": "NM_001001415.4"
}
]
}