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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: 10-128101542-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=128101542&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 128101542,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002417.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.9421C>T",
"hgvs_p": "p.Arg3141Trp",
"transcript": "NM_002417.5",
"protein_id": "NP_002408.3",
"transcript_support_level": null,
"aa_start": 3141,
"aa_end": null,
"aa_length": 3256,
"cds_start": 9421,
"cds_end": null,
"cds_length": 9771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368654.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002417.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.9421C>T",
"hgvs_p": "p.Arg3141Trp",
"transcript": "ENST00000368654.8",
"protein_id": "ENSP00000357643.3",
"transcript_support_level": 2,
"aa_start": 3141,
"aa_end": null,
"aa_length": 3256,
"cds_start": 9421,
"cds_end": null,
"cds_length": 9771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368654.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.9415C>T",
"hgvs_p": "p.Arg3139Trp",
"transcript": "ENST00000935442.1",
"protein_id": "ENSP00000605501.1",
"transcript_support_level": null,
"aa_start": 3139,
"aa_end": null,
"aa_length": 3254,
"cds_start": 9415,
"cds_end": null,
"cds_length": 9765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935442.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.8341C>T",
"hgvs_p": "p.Arg2781Trp",
"transcript": "NM_001145966.2",
"protein_id": "NP_001139438.1",
"transcript_support_level": null,
"aa_start": 2781,
"aa_end": null,
"aa_length": 2896,
"cds_start": 8341,
"cds_end": null,
"cds_length": 8691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145966.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.8341C>T",
"hgvs_p": "p.Arg2781Trp",
"transcript": "ENST00000368653.7",
"protein_id": "ENSP00000357642.3",
"transcript_support_level": 2,
"aa_start": 2781,
"aa_end": null,
"aa_length": 2896,
"cds_start": 8341,
"cds_end": null,
"cds_length": 8691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368653.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.8389C>T",
"hgvs_p": "p.Arg2797Trp",
"transcript": "XM_011539818.3",
"protein_id": "XP_011538120.1",
"transcript_support_level": null,
"aa_start": 2797,
"aa_end": null,
"aa_length": 2912,
"cds_start": 8389,
"cds_end": null,
"cds_length": 8739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539818.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "c.7099C>T",
"hgvs_p": "p.Arg2367Trp",
"transcript": "XM_006717864.4",
"protein_id": "XP_006717927.2",
"transcript_support_level": null,
"aa_start": 2367,
"aa_end": null,
"aa_length": 2482,
"cds_start": 7099,
"cds_end": null,
"cds_length": 7449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717864.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"hgvs_c": "n.634C>T",
"hgvs_p": null,
"transcript": "ENST00000464771.1",
"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": "ENST00000464771.1"
}
],
"gene_symbol": "MKI67",
"gene_hgnc_id": 7107,
"dbsnp": "rs369342718",
"frequency_reference_population": 0.00004584445,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000403588,
"gnomad_genomes_af": 0.0000985118,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0459977388381958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.1274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.587,
"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_002417.5",
"gene_symbol": "MKI67",
"hgnc_id": 7107,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9421C>T",
"hgvs_p": "p.Arg3141Trp"
}
],
"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
}