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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: 12-14840947-GGTAGTCAT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14840947&ref=GGTAGTCAT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14840947,
"ref": "GGTAGTCAT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_021071.4",
"consequences": [
{
"aa_ref": "MTT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.343_350delATGACTAC",
"hgvs_p": "p.Met115fs",
"transcript": "NM_021071.4",
"protein_id": "NP_066549.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 314,
"cds_start": 343,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228936.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021071.4"
},
{
"aa_ref": "MTT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.343_350delATGACTAC",
"hgvs_p": "p.Met115fs",
"transcript": "ENST00000228936.6",
"protein_id": "ENSP00000228936.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 314,
"cds_start": 343,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228936.6"
},
{
"aa_ref": "MTT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.292_299delATGACTAC",
"hgvs_p": "p.Met98fs",
"transcript": "ENST00000420600.2",
"protein_id": "ENSP00000405689.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 273,
"cds_start": 292,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420600.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.165+127_165+134delATGACTAC",
"hgvs_p": null,
"transcript": "ENST00000430129.6",
"protein_id": "ENSP00000412735.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430129.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.93+2015_93+2022delATGACTAC",
"hgvs_p": null,
"transcript": "ENST00000544616.5",
"protein_id": "ENSP00000442877.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544616.5"
},
{
"aa_ref": "MTT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"hgvs_c": "c.343_350delATGACTAC",
"hgvs_p": "p.Met115fs",
"transcript": "NM_001354646.2",
"protein_id": "NP_001341575.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 290,
"cds_start": 343,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354646.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C12orf60",
"gene_hgnc_id": 28726,
"hgvs_c": "n.75+37199_75+37206delAGTCATGT",
"hgvs_p": null,
"transcript": "ENST00000527783.1",
"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": "pseudogene",
"feature": "ENST00000527783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C12orf60",
"gene_hgnc_id": 28726,
"hgvs_c": "n.86+37199_86+37206delAGTCATGT",
"hgvs_p": null,
"transcript": "ENST00000533472.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000533472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf60",
"gene_hgnc_id": 28726,
"hgvs_c": "n.125+11271_125+11278delAGTCATGT",
"hgvs_p": null,
"transcript": "ENST00000648334.1",
"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": "ENST00000648334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256339",
"gene_hgnc_id": null,
"hgvs_c": "n.52-3545_52-3538delAGTCATGT",
"hgvs_p": null,
"transcript": "ENST00000786611.1",
"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": "ENST00000786611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256339",
"gene_hgnc_id": null,
"hgvs_c": "n.-144_-137delGTAGTCAT",
"hgvs_p": null,
"transcript": "ENST00000444324.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000444324.2"
}
],
"gene_symbol": "ART4",
"gene_hgnc_id": 726,
"dbsnp": "rs587777832",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.587,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021071.4",
"gene_symbol": "ART4",
"hgnc_id": 726,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.343_350delATGACTAC",
"hgvs_p": "p.Met115fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527783.1",
"gene_symbol": "C12orf60",
"hgnc_id": 28726,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.75+37199_75+37206delAGTCATGT",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000786611.1",
"gene_symbol": "ENSG00000256339",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.52-3545_52-3538delAGTCATGT",
"hgvs_p": null
}
],
"clinvar_disease": " Dombrock system,Blood group",
"clinvar_classification": "Affects",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Blood group, Dombrock system",
"pathogenicity_classification_combined": "Affects",
"custom_annotations": null
}
],
"message": null
}