← 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: 6-84125191-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=84125191&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 84125191,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000403245.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.4091G>C",
"hgvs_p": "p.Arg1364Pro",
"transcript": "NM_014895.4",
"protein_id": "NP_055710.2",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1403,
"cds_start": 4091,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4214,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": "ENST00000403245.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.4091G>C",
"hgvs_p": "p.Arg1364Pro",
"transcript": "ENST00000403245.8",
"protein_id": "ENSP00000385215.3",
"transcript_support_level": 5,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1403,
"cds_start": 4091,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4214,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": "NM_014895.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3863G>C",
"hgvs_p": "p.Arg1288Pro",
"transcript": "ENST00000257766.8",
"protein_id": "ENSP00000257766.4",
"transcript_support_level": 1,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3863G>C",
"hgvs_p": "p.Arg1288Pro",
"transcript": "NM_001286206.2",
"protein_id": "NP_001273135.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4160,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3863G>C",
"hgvs_p": "p.Arg1288Pro",
"transcript": "ENST00000617909.2",
"protein_id": "ENSP00000481760.1",
"transcript_support_level": 5,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4090,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3977G>C",
"hgvs_p": "p.Arg1326Pro",
"transcript": "XM_005248674.5",
"protein_id": "XP_005248731.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3977,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3977G>C",
"hgvs_p": "p.Arg1326Pro",
"transcript": "XM_017010483.3",
"protein_id": "XP_016865972.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3977,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4887,
"cdna_end": null,
"cdna_length": 5828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3863G>C",
"hgvs_p": "p.Arg1288Pro",
"transcript": "XM_047418386.1",
"protein_id": "XP_047274342.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.3863G>C",
"hgvs_p": "p.Arg1288Pro",
"transcript": "XM_047418387.1",
"protein_id": "XP_047274343.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4092,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "c.2924G>C",
"hgvs_p": "p.Arg975Pro",
"transcript": "XM_011535592.4",
"protein_id": "XP_011533894.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 4008,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "n.3215G>C",
"hgvs_p": null,
"transcript": "ENST00000461137.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4165,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"hgvs_c": "n.1394G>C",
"hgvs_p": null,
"transcript": "ENST00000487999.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.228-14279C>G",
"hgvs_p": null,
"transcript": "XM_017010221.3",
"protein_id": "XP_016865710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": -4,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP162",
"gene_hgnc_id": 21107,
"dbsnp": "rs144811188",
"frequency_reference_population": 0.000003421461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342146,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3064957559108734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.9057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.923,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000403245.8",
"gene_symbol": "CEP162",
"hgnc_id": 21107,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4091G>C",
"hgvs_p": "p.Arg1364Pro"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_017010221.3",
"gene_symbol": "MRAP2",
"hgnc_id": 21232,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.228-14279C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}