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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: 10-52280794-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=52280794&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 52280794,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000373980.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"transcript": "NM_006258.4",
"protein_id": "NP_006249.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 686,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 6615,
"mane_select": "ENST00000373980.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"transcript": "ENST00000373980.11",
"protein_id": "ENSP00000363092.5",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 686,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 6615,
"mane_select": "NM_006258.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.169+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000426785.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "NM_001098512.3",
"protein_id": "NP_001091982.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 671,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 6957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "ENST00000401604.8",
"protein_id": "ENSP00000384200.4",
"transcript_support_level": 5,
"aa_start": 455,
"aa_end": null,
"aa_length": 671,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 6957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"transcript": "ENST00000672084.1",
"protein_id": "ENSP00000499822.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 382,
"cds_start": 560,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ser67Leu",
"transcript": "NM_001374781.1",
"protein_id": "NP_001361710.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 283,
"cds_start": 200,
"cds_end": null,
"cds_length": 852,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Ser369Leu",
"transcript": "XM_017016413.2",
"protein_id": "XP_016871902.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 585,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 6834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"hgvs_c": "n.768C>T",
"hgvs_p": null,
"transcript": "ENST00000373975.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.1035+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000420193.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.1290+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000452247.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.1367+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000649494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.436+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837171.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.390+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837172.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.141+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837173.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.540+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837174.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.484+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837175.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.636+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837176.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.687+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837177.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PRKG1-AS1",
"gene_hgnc_id": 45029,
"hgvs_c": "n.458+13121G>A",
"hgvs_p": null,
"transcript": "ENST00000837178.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKG1",
"gene_hgnc_id": 9414,
"dbsnp": "rs267602521",
"frequency_reference_population": 0.0000034236023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000034236,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39732688665390015,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.374,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.931,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000373980.11",
"gene_symbol": "PRKG1",
"hgnc_id": 9414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000426785.2",
"gene_symbol": "PRKG1-AS1",
"hgnc_id": 45029,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.169+13121G>A",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 8,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Aortic aneurysm, familial thoracic 8|not provided|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}