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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: 9-125149801-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=125149801&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 125149801,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000373547.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "NM_002721.5",
"protein_id": "NP_002712.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 305,
"cds_start": 790,
"cds_end": null,
"cds_length": 918,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": "ENST00000373547.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000373547.9",
"protein_id": "ENSP00000362648.4",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 305,
"cds_start": 790,
"cds_end": null,
"cds_length": 918,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": "NM_002721.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "NM_001123355.2",
"protein_id": "NP_001116827.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 342,
"cds_start": 901,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "ENST00000451402.5",
"protein_id": "ENSP00000392147.1",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 342,
"cds_start": 901,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Cys",
"transcript": "NM_001123369.2",
"protein_id": "NP_001116841.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 283,
"cds_start": 724,
"cds_end": null,
"cds_length": 852,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Cys",
"transcript": "ENST00000415905.5",
"protein_id": "ENSP00000411744.1",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 283,
"cds_start": 724,
"cds_end": null,
"cds_length": 852,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Cys",
"transcript": "XM_047423566.1",
"protein_id": "XP_047279522.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 320,
"cds_start": 835,
"cds_end": null,
"cds_length": 963,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_011518847.4",
"protein_id": "XP_011517149.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 293,
"cds_start": 754,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_047423567.1",
"protein_id": "XP_047279523.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 293,
"cds_start": 754,
"cds_end": null,
"cds_length": 882,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"transcript": "XM_047423568.1",
"protein_id": "XP_047279524.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 271,
"cds_start": 688,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP6C",
"gene_hgnc_id": 9323,
"dbsnp": "rs763733111",
"frequency_reference_population": 0.0000013681051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7911893725395203,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.54,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373547.9",
"gene_symbol": "PPP6C",
"hgnc_id": 9323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}