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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: 9-71694531-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71694531&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CEMIP2",
"hgnc_id": 11869,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_013390.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 70,
"alphamissense_prediction": null,
"alphamissense_score": 0.0722,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07434934377670288,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 3843,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3674,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_013390.3",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377044.9",
"protein_coding": true,
"protein_id": "NP_037522.1",
"strand": false,
"transcript": "NM_013390.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 3843,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3674,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000377044.9",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013390.3",
"protein_coding": true,
"protein_id": "ENSP00000366243.4",
"strand": false,
"transcript": "ENST00000377044.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5217,
"cdna_start": 3527,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000377066.9",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3485G>A",
"hgvs_p": "p.Arg1162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366266.5",
"strand": false,
"transcript": "ENST00000377066.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000542935.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.*1897G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437750.1",
"strand": false,
"transcript": "ENST00000542935.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000542935.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.*1897G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437750.1",
"strand": false,
"transcript": "ENST00000542935.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1389,
"aa_ref": "R",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 3957,
"cds_end": null,
"cds_length": 4170,
"cds_start": 3674,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971297.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641356.1",
"strand": false,
"transcript": "ENST00000971297.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": 3781,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3674,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853336.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523395.1",
"strand": false,
"transcript": "ENST00000853336.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5963,
"cdna_start": 3654,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001135820.2",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3485G>A",
"hgvs_p": "p.Arg1162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129292.1",
"strand": false,
"transcript": "NM_001135820.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 3622,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000911423.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3485G>A",
"hgvs_p": "p.Arg1162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581482.1",
"strand": false,
"transcript": "ENST00000911423.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5210,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853337.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.2732G>A",
"hgvs_p": "p.Arg911His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523396.1",
"strand": false,
"transcript": "ENST00000853337.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 3809,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001349784.2",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336713.1",
"strand": false,
"transcript": "NM_001349784.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1131,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396272.7",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379569.3",
"strand": false,
"transcript": "ENST00000396272.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6090,
"cdna_start": 3781,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3674,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005251869.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251926.1",
"strand": false,
"transcript": "XM_005251869.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047423136.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3485G>A",
"hgvs_p": "p.Arg1162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279092.1",
"strand": false,
"transcript": "XM_047423136.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047423137.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279093.1",
"strand": false,
"transcript": "XM_047423137.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000377057.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.334G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000377057.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146520330",
"effect": "missense_variant",
"frequency_reference_population": 0.00004338056,
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"gnomad_exomes_ac": 62,
"gnomad_exomes_af": 0.0000424207,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000526053,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.376,
"pos": 71694531,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.165,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_013390.3"
}
]
}