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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: 6-126346253-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=126346253&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CENPW",
"hgnc_id": 21488,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Arg74Gly",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001286524.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293110",
"hgnc_id": null,
"hgvs_c": "n.2418-39554T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000651326.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.468,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8275593519210815,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 88,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": 334,
"cds_end": null,
"cds_length": 267,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001012507.4",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Arg59Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368328.5",
"protein_coding": true,
"protein_id": "NP_001012525.1",
"strand": true,
"transcript": "NM_001012507.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 88,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": 334,
"cds_end": null,
"cds_length": 267,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000368328.5",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Arg59Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012507.4",
"protein_coding": true,
"protein_id": "ENSP00000357311.4",
"strand": true,
"transcript": "ENST00000368328.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 103,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": 379,
"cds_end": null,
"cds_length": 312,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286524.2",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Arg74Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273453.1",
"strand": true,
"transcript": "NM_001286524.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 103,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": 320,
"cds_end": null,
"cds_length": 312,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000368325.5",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Arg74Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357308.1",
"strand": true,
"transcript": "ENST00000368325.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 99,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 529,
"cdna_start": 333,
"cds_end": null,
"cds_length": 300,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930041.1",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Arg74Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600100.1",
"strand": true,
"transcript": "ENST00000930041.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 84,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": 334,
"cds_end": null,
"cds_length": 255,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930040.1",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Arg59Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600099.1",
"strand": true,
"transcript": "ENST00000930040.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 67,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 769,
"cdna_start": 294,
"cds_end": null,
"cds_length": 204,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286525.2",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Pro45Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273454.1",
"strand": true,
"transcript": "NM_001286525.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 67,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 443,
"cdna_start": 235,
"cds_end": null,
"cds_length": 204,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000368326.5",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Pro45Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357309.1",
"strand": true,
"transcript": "ENST00000368326.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 67,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 363,
"cdna_start": 294,
"cds_end": null,
"cds_length": 204,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017010845.2",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Pro45Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866334.1",
"strand": true,
"transcript": "XM_017010845.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_104462.2",
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"hgvs_c": "n.334A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_104462.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651326.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293110",
"hgvs_c": "n.2418-39554T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000651326.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652383.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293110",
"hgvs_c": "n.631-35496T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000652383.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs143719119",
"effect": "missense_variant",
"frequency_reference_population": 0.000009944905,
"gene_hgnc_id": 21488,
"gene_symbol": "CENPW",
"gnomad_exomes_ac": 12,
"gnomad_exomes_af": 0.00000823826,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262733,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.918,
"pos": 126346253,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.323,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001286524.2"
}
]
}