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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: 10-52161958-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=52161958&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 52161958,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_006258.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys",
"transcript": "NM_006258.4",
"protein_id": "NP_006249.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 686,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373980.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006258.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys",
"transcript": "ENST00000373980.11",
"protein_id": "ENSP00000363092.5",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 686,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006258.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373980.11"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Lys342Lys",
"transcript": "NM_001098512.3",
"protein_id": "NP_001091982.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 671,
"cds_start": 1026,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098512.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Lys342Lys",
"transcript": "ENST00000401604.8",
"protein_id": "ENSP00000384200.4",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 671,
"cds_start": 1026,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401604.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Lys74Lys",
"transcript": "ENST00000672084.1",
"protein_id": "ENSP00000499822.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 382,
"cds_start": 222,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672084.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.768A>G",
"hgvs_p": "p.Lys256Lys",
"transcript": "XM_017016413.2",
"protein_id": "XP_016871902.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 585,
"cds_start": 768,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016413.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys",
"transcript": "XM_011539952.3",
"protein_id": "XP_011538254.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 406,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539952.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.-139A>G",
"hgvs_p": null,
"transcript": "NM_001374781.1",
"protein_id": "NP_001361710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "n.430A>G",
"hgvs_p": null,
"transcript": "ENST00000373975.3",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000373975.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "n.910A>G",
"hgvs_p": null,
"transcript": "ENST00000646354.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000646354.1"
}
],
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"dbsnp": "rs75650199",
"frequency_reference_population": 0.0015982415,
"hom_count_reference_population": 6,
"allele_count_reference_population": 2574,
"gnomad_exomes_af": 0.00166475,
"gnomad_genomes_af": 0.000960236,
"gnomad_exomes_ac": 2428,
"gnomad_genomes_ac": 146,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"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": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.894,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006258.4",
"gene_symbol": "PRKG1",
"hgnc_id": 9414,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys"
}
],
"clinvar_disease": " familial thoracic 8,Aortic aneurysm,Connective tissue disorder,Familial thoracic aortic aneurysm and aortic dissection,PRKG1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:6",
"phenotype_combined": "Connective tissue disorder|Aortic aneurysm, familial thoracic 8|not provided|Familial thoracic aortic aneurysm and aortic dissection|not specified|PRKG1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}