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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: 16-82148850-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=82148850&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 82148850,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005792.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Leu",
"transcript": "NM_005792.2",
"protein_id": "NP_005783.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 160,
"cds_start": 364,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258169.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005792.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Leu",
"transcript": "ENST00000258169.9",
"protein_id": "ENSP00000258169.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 160,
"cds_start": 364,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005792.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258169.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.394G>T",
"hgvs_p": "p.Val132Leu",
"transcript": "ENST00000953188.1",
"protein_id": "ENSP00000623247.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 170,
"cds_start": 394,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953188.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Val128Leu",
"transcript": "ENST00000880962.1",
"protein_id": "ENSP00000551021.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 166,
"cds_start": 382,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880962.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.358G>T",
"hgvs_p": "p.Val120Leu",
"transcript": "ENST00000931758.1",
"protein_id": "ENSP00000601817.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 158,
"cds_start": 358,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931758.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Val93Leu",
"transcript": "ENST00000563504.5",
"protein_id": "ENSP00000456626.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 131,
"cds_start": 277,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563504.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.178G>T",
"hgvs_p": "p.Val60Leu",
"transcript": "ENST00000931759.1",
"protein_id": "ENSP00000601818.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 98,
"cds_start": 178,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931759.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Leu",
"transcript": "XM_011522808.4",
"protein_id": "XP_011521110.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 142,
"cds_start": 310,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522808.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"hgvs_c": "n.310G>T",
"hgvs_p": null,
"transcript": "ENST00000563100.5",
"protein_id": "ENSP00000454996.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000563100.5"
}
],
"gene_symbol": "MPHOSPH6",
"gene_hgnc_id": 7214,
"dbsnp": "rs1401383088",
"frequency_reference_population": 0.000001368122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3178790211677551,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.6286,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.646,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005792.2",
"gene_symbol": "MPHOSPH6",
"hgnc_id": 7214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Val122Leu"
}
],
"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
}