← Back to variant description
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: 19-52511066-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52511066&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52511066,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001099694.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "NM_001099694.2",
"protein_id": "NP_001093164.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "ENST00000421239.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099694.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "ENST00000421239.7",
"protein_id": "ENSP00000459216.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "NM_001099694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421239.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "NM_001366182.2",
"protein_id": "NP_001353111.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366182.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "ENST00000601120.1",
"protein_id": "ENSP00000470790.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 252,
"cds_start": 685,
"cds_end": null,
"cds_length": 761,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601120.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "XM_047438189.1",
"protein_id": "XP_047294145.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 6666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438189.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "XM_047438190.1",
"protein_id": "XP_047294146.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438190.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "XM_047438191.1",
"protein_id": "XP_047294147.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438191.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "XM_047438192.1",
"protein_id": "XP_047294148.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438192.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu",
"transcript": "XM_047438193.1",
"protein_id": "XP_047294149.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 590,
"cds_start": 685,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 6580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438193.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "ZNF578",
"gene_hgnc_id": 26449,
"hgvs_c": "c.478A>G",
"hgvs_p": "p.Lys160Glu",
"transcript": "XM_047438194.1",
"protein_id": "XP_047294150.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 521,
"cds_start": 478,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438194.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269349",
"gene_hgnc_id": null,
"hgvs_c": "n.*216T>C",
"hgvs_p": null,
"transcript": "ENST00000599143.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000599143.1"
}
],
"gene_symbol": "ZNF578",
"gene_hgnc_id": 26449,
"dbsnp": null,
"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": 0.1339055597782135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.1012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.023,
"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_001099694.2",
"gene_symbol": "ZNF578",
"hgnc_id": 26449,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Lys229Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599143.1",
"gene_symbol": "ENSG00000269349",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*216T>C",
"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
}