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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: 10-128108716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=128108716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 128108716,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000368654.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Gly1042Ser",
"transcript": "NM_002417.5",
"protein_id": "NP_002408.3",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 3256,
"cds_start": 3124,
"cds_end": null,
"cds_length": 9771,
"cdna_start": 3538,
"cdna_end": null,
"cdna_length": 12716,
"mane_select": "ENST00000368654.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Gly1042Ser",
"transcript": "ENST00000368654.8",
"protein_id": "ENSP00000357643.3",
"transcript_support_level": 2,
"aa_start": 1042,
"aa_end": null,
"aa_length": 3256,
"cds_start": 3124,
"cds_end": null,
"cds_length": 9771,
"cdna_start": 3538,
"cdna_end": null,
"cdna_length": 12716,
"mane_select": "NM_002417.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Gly682Ser",
"transcript": "NM_001145966.2",
"protein_id": "NP_001139438.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 2896,
"cds_start": 2044,
"cds_end": null,
"cds_length": 8691,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 11636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Gly682Ser",
"transcript": "ENST00000368653.7",
"protein_id": "ENSP00000357642.3",
"transcript_support_level": 2,
"aa_start": 682,
"aa_end": null,
"aa_length": 2896,
"cds_start": 2044,
"cds_end": null,
"cds_length": 8691,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 11417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"transcript": "XM_011539818.3",
"protein_id": "XP_011538120.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 2912,
"cds_start": 2092,
"cds_end": null,
"cds_length": 8739,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 12036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Ser",
"transcript": "XM_006717864.4",
"protein_id": "XP_006717927.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 2482,
"cds_start": 802,
"cds_end": null,
"cds_length": 7449,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 10567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"dbsnp": "rs2152143",
"frequency_reference_population": 0.23922758,
"hom_count_reference_population": 47492,
"allele_count_reference_population": 386120,
"gnomad_exomes_af": 0.241761,
"gnomad_genomes_af": 0.214885,
"gnomad_exomes_ac": 353424,
"gnomad_genomes_ac": 32696,
"gnomad_exomes_homalt": 43598,
"gnomad_genomes_homalt": 3894,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005090862512588501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.364,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368654.8",
"gene_symbol": "MKI67",
"hgnc_id": 7107,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Gly1042Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}