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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: 20-38918422-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38918422&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38918422,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015568.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "NM_015568.4",
"protein_id": "NP_056383.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 567,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299824.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015568.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "ENST00000299824.6",
"protein_id": "ENSP00000299824.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 567,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015568.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299824.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1478G>C",
"hgvs_p": "p.Arg493Pro",
"transcript": "ENST00000969166.1",
"protein_id": "ENSP00000639225.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 573,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969166.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "ENST00000969164.1",
"protein_id": "ENSP00000639223.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 567,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969164.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "ENST00000969165.1",
"protein_id": "ENSP00000639224.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 567,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969165.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1334G>C",
"hgvs_p": "p.Arg445Pro",
"transcript": "NM_001172735.3",
"protein_id": "NP_001166206.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 525,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172735.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1334G>C",
"hgvs_p": "p.Arg445Pro",
"transcript": "ENST00000373331.2",
"protein_id": "ENSP00000362428.1",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 525,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373331.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.1472G>C",
"hgvs_p": "p.Arg491Pro",
"transcript": "XM_011528768.4",
"protein_id": "XP_011527070.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 571,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528768.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Arg288Pro",
"transcript": "XM_047440086.1",
"protein_id": "XP_047296042.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 368,
"cds_start": 863,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440086.1"
}
],
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"dbsnp": "rs970297088",
"frequency_reference_population": 6.8410685e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84107e-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": 0.7213764190673828,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.617,
"phylop100way_prediction": "Pathogenic",
"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": 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_015568.4",
"gene_symbol": "PPP1R16B",
"hgnc_id": 15850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}