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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: 10-20177352-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20177352&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 20177352,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032812.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"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": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "NM_032812.9",
"protein_id": "NP_116201.7",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 529,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 12275,
"mane_select": "ENST00000377252.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032812.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"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": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "ENST00000377252.5",
"protein_id": "ENSP00000366460.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 529,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 12275,
"mane_select": "NM_032812.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377252.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "ENST00000377242.7",
"protein_id": "ENSP00000366450.3",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 480,
"cds_start": 857,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377242.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Gly371Val",
"transcript": "ENST00000888733.1",
"protein_id": "ENSP00000558792.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 565,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888733.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "ENST00000888732.1",
"protein_id": "ENSP00000558791.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 529,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888732.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1001G>T",
"hgvs_p": "p.Gly334Val",
"transcript": "ENST00000970499.1",
"protein_id": "ENSP00000640558.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 528,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970499.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "ENST00000970501.1",
"protein_id": "ENSP00000640560.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 524,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970501.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "ENST00000970498.1",
"protein_id": "ENSP00000640557.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 516,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970498.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.881G>T",
"hgvs_p": "p.Gly294Val",
"transcript": "ENST00000970502.1",
"protein_id": "ENSP00000640561.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 488,
"cds_start": 881,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970502.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "NM_001282736.2",
"protein_id": "NP_001269665.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 480,
"cds_start": 857,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 12128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282736.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val",
"transcript": "XM_011519750.3",
"protein_id": "XP_011518052.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 564,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519750.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.783+29450G>T",
"hgvs_p": null,
"transcript": "ENST00000970500.1",
"protein_id": "ENSP00000640559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "n.779G>T",
"hgvs_p": null,
"transcript": "ENST00000377238.2",
"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": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000377238.2"
}
],
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"dbsnp": "rs754188191",
"frequency_reference_population": 6.878355e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87835e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3085215091705322,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.1227,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.198,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032812.9",
"gene_symbol": "PLXDC2",
"hgnc_id": 21013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Gly335Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}