← Back to variant description
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: 1-153341677-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153341677&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153341677,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359650.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val",
"transcript": "NM_020393.4",
"protein_id": "NP_065126.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 373,
"cds_start": 575,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "ENST00000359650.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val",
"transcript": "ENST00000359650.10",
"protein_id": "ENSP00000352672.5",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 373,
"cds_start": 575,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "NM_020393.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.563G>T",
"hgvs_p": "p.Gly188Val",
"transcript": "ENST00000368739.3",
"protein_id": "ENSP00000357728.3",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 369,
"cds_start": 563,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val",
"transcript": "XM_011509789.3",
"protein_id": "XP_011508091.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 373,
"cds_start": 575,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val",
"transcript": "XM_011509790.1",
"protein_id": "XP_011508092.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 373,
"cds_start": 575,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.563G>T",
"hgvs_p": "p.Gly188Val",
"transcript": "XM_011509791.3",
"protein_id": "XP_011508093.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 369,
"cds_start": 563,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val",
"transcript": "XM_011509792.1",
"protein_id": "XP_011508094.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 340,
"cds_start": 575,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "c.71G>T",
"hgvs_p": "p.Gly24Val",
"transcript": "XM_011509793.2",
"protein_id": "XP_011508095.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 71,
"cds_end": null,
"cds_length": 618,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1817,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "n.935G>T",
"hgvs_p": null,
"transcript": "XR_007062001.1",
"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": 1827,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"hgvs_c": "n.935G>T",
"hgvs_p": null,
"transcript": "XR_921897.3",
"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": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PGLYRP4",
"gene_hgnc_id": 30015,
"dbsnp": "rs3006448",
"frequency_reference_population": 0.85060567,
"hom_count_reference_population": 584299,
"allele_count_reference_population": 1372471,
"gnomad_exomes_af": 0.852681,
"gnomad_genomes_af": 0.830693,
"gnomad_exomes_ac": 1245983,
"gnomad_genomes_ac": 126488,
"gnomad_exomes_homalt": 531574,
"gnomad_genomes_homalt": 52725,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.112981054684496e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0474,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.997,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000359650.10",
"gene_symbol": "PGLYRP4",
"hgnc_id": 30015,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Gly192Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}