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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: 10-20177043-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20177043&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 20177043,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032812.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "NM_032812.9",
"protein_id": "NP_116201.7",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 529,
"cds_start": 928,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377252.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032812.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "ENST00000377252.5",
"protein_id": "ENSP00000366460.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 529,
"cds_start": 928,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032812.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377252.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"transcript": "ENST00000377242.7",
"protein_id": "ENSP00000366450.3",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 480,
"cds_start": 781,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377242.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.1036C>A",
"hgvs_p": "p.Gln346Lys",
"transcript": "ENST00000888733.1",
"protein_id": "ENSP00000558792.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 565,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888733.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "ENST00000888732.1",
"protein_id": "ENSP00000558791.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 529,
"cds_start": 928,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888732.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Gln309Lys",
"transcript": "ENST00000970499.1",
"protein_id": "ENSP00000640558.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 528,
"cds_start": 925,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970499.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "ENST00000970501.1",
"protein_id": "ENSP00000640560.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 524,
"cds_start": 928,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970501.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "ENST00000970498.1",
"protein_id": "ENSP00000640557.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 516,
"cds_start": 928,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970498.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Gln269Lys",
"transcript": "ENST00000970502.1",
"protein_id": "ENSP00000640561.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 488,
"cds_start": 805,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970502.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"transcript": "NM_001282736.2",
"protein_id": "NP_001269665.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 480,
"cds_start": 781,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282736.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"transcript": "XM_011519750.3",
"protein_id": "XP_011518052.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 564,
"cds_start": 928,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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+29141C>A",
"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": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"hgvs_c": "n.703C>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000377238.2"
}
],
"gene_symbol": "PLXDC2",
"gene_hgnc_id": 21013,
"dbsnp": "rs760354875",
"frequency_reference_population": 0.000008065847,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000410961,
"gnomad_genomes_af": 0.0000461315,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11593300104141235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.0979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.011,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032812.9",
"gene_symbol": "PLXDC2",
"hgnc_id": 21013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}