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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: 12-121921483-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121921483&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121921483,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_144668.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "NM_144668.6",
"protein_id": "NP_653269.3",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1149,
"cds_start": 178,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288912.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144668.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000288912.9",
"protein_id": "ENSP00000288912.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 1149,
"cds_start": 178,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144668.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288912.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000397454.2",
"protein_id": "ENSP00000380595.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 941,
"cds_start": 178,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397454.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000880754.1",
"protein_id": "ENSP00000550813.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1149,
"cds_start": 178,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880754.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000969643.1",
"protein_id": "ENSP00000639702.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1149,
"cds_start": 178,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969643.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000880756.1",
"protein_id": "ENSP00000550815.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1132,
"cds_start": 178,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880756.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "ENST00000880755.1",
"protein_id": "ENSP00000550814.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1123,
"cds_start": 178,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880755.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "NM_001178003.2",
"protein_id": "NP_001171474.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 941,
"cds_start": 178,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178003.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"hgvs_c": "n.76G>A",
"hgvs_p": null,
"transcript": "ENST00000540779.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000540779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256950",
"gene_hgnc_id": null,
"hgvs_c": "n.*283G>A",
"hgvs_p": null,
"transcript": "ENST00000546333.1",
"protein_id": "ENSP00000477146.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256950",
"gene_hgnc_id": null,
"hgvs_c": "n.*92G>A",
"hgvs_p": null,
"transcript": "ENST00000544911.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000544911.1"
}
],
"gene_symbol": "CFAP251",
"gene_hgnc_id": 28506,
"dbsnp": "rs754769413",
"frequency_reference_population": 0.000002488952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205317,
"gnomad_genomes_af": 0.00000685176,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0473979115486145,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.0688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.195,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_144668.6",
"gene_symbol": "CFAP251",
"hgnc_id": 28506,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000546333.1",
"gene_symbol": "ENSG00000256950",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*283G>A",
"hgvs_p": null
}
],
"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
}