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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: 19-21536556-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=21536556&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 21536556,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001001415.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Thr168Asn",
"transcript": "NM_001001415.4",
"protein_id": "NP_001001415.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 674,
"cds_start": 503,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358491.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001415.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Thr168Asn",
"transcript": "ENST00000358491.9",
"protein_id": "ENSP00000351280.3",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 674,
"cds_start": 503,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001415.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358491.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.227-5208C>A",
"hgvs_p": null,
"transcript": "ENST00000597078.5",
"protein_id": "ENSP00000470300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597078.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Thr166Asn",
"transcript": "NM_001346912.2",
"protein_id": "NP_001333841.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 672,
"cds_start": 497,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346912.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Thr155Asn",
"transcript": "ENST00000967842.1",
"protein_id": "ENSP00000637901.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 661,
"cds_start": 464,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967842.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Asn",
"transcript": "NM_001346913.2",
"protein_id": "NP_001333842.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 642,
"cds_start": 407,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346913.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Asn",
"transcript": "NM_001346914.2",
"protein_id": "NP_001333843.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 642,
"cds_start": 407,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346914.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Asn",
"transcript": "NM_001346915.2",
"protein_id": "NP_001333844.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 642,
"cds_start": 407,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346915.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Asn",
"transcript": "NM_001346916.2",
"protein_id": "NP_001333845.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 610,
"cds_start": 311,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346916.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.548C>A",
"hgvs_p": "p.Thr183Asn",
"transcript": "XM_017026748.3",
"protein_id": "XP_016882237.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 689,
"cds_start": 548,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026748.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.548C>A",
"hgvs_p": "p.Thr183Asn",
"transcript": "XM_047438765.1",
"protein_id": "XP_047294721.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 689,
"cds_start": 548,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438765.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Asn",
"transcript": "XM_017026752.2",
"protein_id": "XP_016882241.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 642,
"cds_start": 407,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026752.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"hgvs_c": "n.*57C>A",
"hgvs_p": null,
"transcript": "ENST00000594022.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000594022.1"
}
],
"gene_symbol": "ZNF429",
"gene_hgnc_id": 20817,
"dbsnp": "rs202041854",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15683647990226746,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.1004,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.436,
"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_001001415.4",
"gene_symbol": "ZNF429",
"hgnc_id": 20817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Thr168Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}