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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: 6-31412384-G-GCTGCTGCTGCTGCTGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31412384&ref=G&alt=GCTGCTGCTGCTGCTGCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31412384,
"ref": "G",
"alt": "GCTGCTGCTGCTGCTGCT",
"effect": "frameshift_variant",
"transcript": "ENST00000449934.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.952_953insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly318fs",
"transcript": "NM_001177519.3",
"protein_id": "NP_001170990.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 332,
"cds_start": 953,
"cds_end": null,
"cds_length": 999,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": "ENST00000449934.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.952_953insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly318fs",
"transcript": "ENST00000449934.7",
"protein_id": "ENSP00000413079.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 332,
"cds_start": 953,
"cds_end": null,
"cds_length": 999,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": "NM_001177519.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.661_662insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_001289152.2",
"protein_id": "NP_001276081.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 235,
"cds_start": 662,
"cds_end": null,
"cds_length": 708,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.661_662insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly221fs",
"transcript": "NM_001289153.2",
"protein_id": "NP_001276082.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 235,
"cds_start": 662,
"cds_end": null,
"cds_length": 708,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.661_662insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly221fs",
"transcript": "ENST00000616296.4",
"protein_id": "ENSP00000482382.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 235,
"cds_start": 662,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.625_626insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly209fs",
"transcript": "ENST00000421350.1",
"protein_id": "ENSP00000402410.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 223,
"cds_start": 626,
"cds_end": null,
"cds_length": 672,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.538_539insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly180fs",
"transcript": "NM_001289154.2",
"protein_id": "NP_001276083.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 194,
"cds_start": 539,
"cds_end": null,
"cds_length": 585,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "AAAAAA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.538_539insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly180fs",
"transcript": "ENST00000674069.1",
"protein_id": "ENSP00000501157.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 194,
"cds_start": 539,
"cds_end": null,
"cds_length": 585,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288587",
"gene_hgnc_id": null,
"hgvs_c": "n.62+11621_62+11622insCTGCTGCTGCTGCTGCT",
"hgvs_p": null,
"transcript": "ENST00000673857.1",
"protein_id": null,
"transcript_support_level": null,
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"dbsnp": "rs41293539",
"frequency_reference_population": 9.2691636e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.26916e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": -0.641,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000449934.7",
"gene_symbol": "MICA",
"hgnc_id": 7090,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.952_953insCTGCTGCTGCTGCTGCT",
"hgvs_p": "p.Gly318fs"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673857.1",
"gene_symbol": "ENSG00000288587",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.62+11621_62+11622insCTGCTGCTGCTGCTGCT",
"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
}