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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: 6-43610592-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43610592&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43610592,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006502.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg",
"transcript": "NM_006502.3",
"protein_id": "NP_006493.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 713,
"cds_start": 1113,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372236.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006502.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg",
"transcript": "ENST00000372236.9",
"protein_id": "ENSP00000361310.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 713,
"cds_start": 1113,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006502.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372236.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg",
"transcript": "ENST00000372226.1",
"protein_id": "ENSP00000361300.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 414,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372226.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg",
"transcript": "ENST00000921322.1",
"protein_id": "ENSP00000591381.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 713,
"cds_start": 1113,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921322.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1047T>C",
"hgvs_p": "p.Arg349Arg",
"transcript": "ENST00000953718.1",
"protein_id": "ENSP00000623777.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 691,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953718.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.993T>C",
"hgvs_p": "p.Arg331Arg",
"transcript": "ENST00000901658.1",
"protein_id": "ENSP00000571717.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 673,
"cds_start": 993,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901658.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.741T>C",
"hgvs_p": "p.Arg247Arg",
"transcript": "NM_001291969.2",
"protein_id": "NP_001278898.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 589,
"cds_start": 741,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291969.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg",
"transcript": "NM_001291970.2",
"protein_id": "NP_001278899.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 414,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291970.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Arg219Arg",
"transcript": "XM_047418900.1",
"protein_id": "XP_047274856.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 561,
"cds_start": 657,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTPBP2",
"gene_hgnc_id": 4670,
"hgvs_c": "n.*132-5210A>G",
"hgvs_p": null,
"transcript": "ENST00000496137.5",
"protein_id": "ENSP00000436973.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000496137.5"
}
],
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"dbsnp": "rs772969702",
"frequency_reference_population": 0.0000012391605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84069e-7,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.083,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006502.3",
"gene_symbol": "POLH",
"hgnc_id": 9181,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1113T>C",
"hgvs_p": "p.Arg371Arg"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000496137.5",
"gene_symbol": "GTPBP2",
"hgnc_id": 4670,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*132-5210A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}