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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: 6-161360193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=161360193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 161360193,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366898.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn",
"transcript": "NM_004562.3",
"protein_id": "NP_004553.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 465,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": "ENST00000366898.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn",
"transcript": "ENST00000366898.6",
"protein_id": "ENSP00000355865.1",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 465,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": "NM_004562.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Asp366Asn",
"transcript": "ENST00000366897.5",
"protein_id": "ENSP00000355863.1",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 437,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Asp245Asn",
"transcript": "ENST00000366896.5",
"protein_id": "ENSP00000355862.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 316,
"cds_start": 733,
"cds_end": null,
"cds_length": 951,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*626G>A",
"hgvs_p": null,
"transcript": "ENST00000338468.8",
"protein_id": "ENSP00000343589.4",
"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": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*626G>A",
"hgvs_p": null,
"transcript": "ENST00000338468.8",
"protein_id": "ENSP00000343589.4",
"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": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Asp366Asn",
"transcript": "NM_013987.3",
"protein_id": "NP_054642.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 437,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Asp245Asn",
"transcript": "NM_013988.3",
"protein_id": "NP_054643.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 316,
"cds_start": 733,
"cds_end": null,
"cds_length": 951,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "XM_017010908.2",
"protein_id": "XP_016866397.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 503,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Asp393Asn",
"transcript": "XM_011535863.2",
"protein_id": "XP_011534165.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 464,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Asp315Asn",
"transcript": "XM_024446449.2",
"protein_id": "XP_024302217.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 386,
"cds_start": 943,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*651G>A",
"hgvs_p": null,
"transcript": "ENST00000366894.6",
"protein_id": "ENSP00000355860.2",
"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": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*174G>A",
"hgvs_p": null,
"transcript": "ENST00000673871.1",
"protein_id": "ENSP00000501207.1",
"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": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.565G>A",
"hgvs_p": null,
"transcript": "ENST00000674006.1",
"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": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.816G>A",
"hgvs_p": null,
"transcript": "ENST00000674436.1",
"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": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*651G>A",
"hgvs_p": null,
"transcript": "ENST00000366894.6",
"protein_id": "ENSP00000355860.2",
"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": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*174G>A",
"hgvs_p": null,
"transcript": "ENST00000673871.1",
"protein_id": "ENSP00000501207.1",
"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": 3971,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"hgvs_c": "n.*62-9982G>A",
"hgvs_p": null,
"transcript": "ENST00000479615.5",
"protein_id": "ENSP00000434414.1",
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKN",
"gene_hgnc_id": 8607,
"dbsnp": "rs1801334",
"frequency_reference_population": 0.034082104,
"hom_count_reference_population": 1150,
"allele_count_reference_population": 54979,
"gnomad_exomes_af": 0.0350295,
"gnomad_genomes_af": 0.0249954,
"gnomad_exomes_ac": 51172,
"gnomad_genomes_ac": 3807,
"gnomad_exomes_homalt": 1086,
"gnomad_genomes_homalt": 64,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0038829147815704346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1259,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.294,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366898.6",
"gene_symbol": "PRKN",
"hgnc_id": 8607,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Asp394Asn"
}
],
"clinvar_disease": "Autosomal recessive juvenile Parkinson disease 2,Lung cancer,Ovarian neoplasm,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "Autosomal recessive juvenile Parkinson disease 2|not provided|not specified|Ovarian neoplasm;Autosomal recessive juvenile Parkinson disease 2;Lung cancer",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}