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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: 19-36449858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36449858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36449858,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000452939.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_001145344.1",
"protein_id": "NP_001138816.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": "ENST00000452939.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000452939.7",
"protein_id": "ENSP00000411526.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": "NM_001145344.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "ENST00000493391.6",
"protein_id": "ENSP00000465343.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 314,
"cds_start": 64,
"cds_end": null,
"cds_length": 945,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "NM_001145343.1",
"protein_id": "NP_001138815.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 419,
"cds_start": 379,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "NM_001437584.1",
"protein_id": "NP_001424513.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 419,
"cds_start": 379,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000392170.7",
"protein_id": "ENSP00000376010.2",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 419,
"cds_start": 379,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000427002.2",
"protein_id": "ENSP00000400651.2",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 419,
"cds_start": 379,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_001145345.1",
"protein_id": "NP_001138817.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_032838.4",
"protein_id": "NP_116227.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000424129.7",
"protein_id": "ENSP00000401259.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000434377.6",
"protein_id": "ENSP00000415520.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 418,
"cds_start": 376,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94Trp",
"transcript": "NM_001437585.1",
"protein_id": "NP_001424514.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 386,
"cds_start": 280,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94Trp",
"transcript": "NM_001437588.1",
"protein_id": "NP_001424517.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 386,
"cds_start": 280,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "NM_001300970.2",
"protein_id": "NP_001287899.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 314,
"cds_start": 64,
"cds_end": null,
"cds_length": 945,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "NM_001437586.1",
"protein_id": "NP_001424515.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 314,
"cds_start": 64,
"cds_end": null,
"cds_length": 945,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "NM_001437587.1",
"protein_id": "NP_001424516.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 314,
"cds_start": 64,
"cds_end": null,
"cds_length": 945,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Trp",
"transcript": "XM_047439566.1",
"protein_id": "XP_047295522.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 374,
"cds_start": 244,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF566",
"gene_hgnc_id": 25919,
"dbsnp": "rs2967532",
"frequency_reference_population": 0.000006816362,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615658,
"gnomad_genomes_af": 0.0000131653,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09641590714454651,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.095,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.143,
"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": "ENST00000452939.7",
"gene_symbol": "ZNF566",
"hgnc_id": 25919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}