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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: 20-38906032-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38906032&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38906032,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015568.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "NM_015568.4",
"protein_id": "NP_056383.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 567,
"cds_start": 760,
"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": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000299824.6",
"protein_id": "ENSP00000299824.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 567,
"cds_start": 760,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000969166.1",
"protein_id": "ENSP00000639225.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 573,
"cds_start": 760,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000969164.1",
"protein_id": "ENSP00000639223.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 567,
"cds_start": 760,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000969165.1",
"protein_id": "ENSP00000639224.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 567,
"cds_start": 760,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "XM_011528768.4",
"protein_id": "XP_011527070.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 571,
"cds_start": 772,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Arg55Cys",
"transcript": "XM_047440086.1",
"protein_id": "XP_047296042.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 368,
"cds_start": 163,
"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"
},
{
"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": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.697-947C>T",
"hgvs_p": null,
"transcript": "NM_001172735.3",
"protein_id": "NP_001166206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"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": 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": "PPP1R16B",
"gene_hgnc_id": 15850,
"hgvs_c": "c.697-947C>T",
"hgvs_p": null,
"transcript": "ENST00000373331.2",
"protein_id": "ENSP00000362428.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"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"
}
],
"gene_symbol": "PPP1R16B",
"gene_hgnc_id": 15850,
"dbsnp": "rs764606541",
"frequency_reference_population": 0.000008057778,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000821192,
"gnomad_genomes_af": 0.00000657644,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3849247097969055,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.1444,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015568.4",
"gene_symbol": "PPP1R16B",
"hgnc_id": 15850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys"
}
],
"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
}