← 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: 12-109768158-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109768158&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109768158,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032829.3",
"consequences": [
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "NM_032829.3",
"protein_id": "NP_116218.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538780.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032829.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "ENST00000538780.2",
"protein_id": "ENSP00000443292.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032829.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538780.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "ENST00000358906.3",
"protein_id": "ENSP00000351783.3",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358906.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "ENST00000898959.1",
"protein_id": "ENSP00000569018.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898959.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "ENST00000948520.1",
"protein_id": "ENSP00000618579.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948520.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "XM_017020055.2",
"protein_id": "XP_016875544.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020055.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "XM_047429748.1",
"protein_id": "XP_047285704.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429748.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "XM_047429749.1",
"protein_id": "XP_047285705.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 452,
"cds_start": 229,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429749.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43Cys",
"transcript": "XM_024449229.2",
"protein_id": "XP_024304997.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 418,
"cds_start": 127,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449229.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222A-AS1",
"gene_hgnc_id": 28223,
"hgvs_c": "n.189+5139G>A",
"hgvs_p": null,
"transcript": "ENST00000541460.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000541460.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222A-AS1",
"gene_hgnc_id": 28223,
"hgvs_c": "n.212+5139G>A",
"hgvs_p": null,
"transcript": "ENST00000541723.5",
"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": "pseudogene",
"feature": "ENST00000541723.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222A-AS1",
"gene_hgnc_id": 28223,
"hgvs_c": "n.191+5139G>A",
"hgvs_p": null,
"transcript": "NR_026661.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_026661.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222A-AS1",
"gene_hgnc_id": 28223,
"hgvs_c": "n.191+5139G>A",
"hgvs_p": null,
"transcript": "NR_026662.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_026662.2"
}
],
"gene_symbol": "FAM222A",
"gene_hgnc_id": 25915,
"dbsnp": "rs146163512",
"frequency_reference_population": 0.00003717919,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.000039684,
"gnomad_genomes_af": 0.0000131356,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8260289430618286,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.511,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.508,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_032829.3",
"gene_symbol": "FAM222A",
"hgnc_id": 25915,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000541723.5",
"gene_symbol": "FAM222A-AS1",
"hgnc_id": 28223,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.212+5139G>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
}