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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: 16-4694103-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4694103&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4694103,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032349.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "NM_032349.4",
"protein_id": "NP_115725.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 211,
"cds_start": 279,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304301.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032349.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "ENST00000304301.11",
"protein_id": "ENSP00000306670.5",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 211,
"cds_start": 279,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304301.11"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "ENST00000405142.1",
"protein_id": "ENSP00000458144.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 247,
"cds_start": 279,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405142.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Glu91Asp",
"transcript": "NM_001370585.1",
"protein_id": "NP_001357514.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 209,
"cds_start": 273,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370585.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Glu91Asp",
"transcript": "ENST00000860911.1",
"protein_id": "ENSP00000530970.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 209,
"cds_start": 273,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860911.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.237G>C",
"hgvs_p": "p.Glu79Asp",
"transcript": "ENST00000590460.1",
"protein_id": "ENSP00000464821.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 197,
"cds_start": 237,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590460.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "NM_001193452.1",
"protein_id": "NP_001180381.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 192,
"cds_start": 279,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193452.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "ENST00000586536.1",
"protein_id": "ENSP00000468346.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 192,
"cds_start": 279,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586536.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.273G>C",
"hgvs_p": "p.Glu91Asp",
"transcript": "NM_001370586.1",
"protein_id": "NP_001357515.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 190,
"cds_start": 273,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370586.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "NM_001370587.1",
"protein_id": "NP_001357516.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 171,
"cds_start": 279,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370587.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp",
"transcript": "ENST00000586252.1",
"protein_id": "ENSP00000466854.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 171,
"cds_start": 279,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586252.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.321G>C",
"hgvs_p": "p.Glu107Asp",
"transcript": "XM_005255633.6",
"protein_id": "XP_005255690.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 261,
"cds_start": 321,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255633.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.153+224G>C",
"hgvs_p": null,
"transcript": "NM_001370588.1",
"protein_id": "NP_001357517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.153+224G>C",
"hgvs_p": null,
"transcript": "ENST00000860912.1",
"protein_id": "ENSP00000530971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"hgvs_c": "c.147+230G>C",
"hgvs_p": null,
"transcript": "ENST00000924884.1",
"protein_id": "ENSP00000594943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924884.1"
}
],
"gene_symbol": "NUDT16L1",
"gene_hgnc_id": 28154,
"dbsnp": "rs371623599",
"frequency_reference_population": 0.000047765818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000500385,
"gnomad_genomes_af": 0.0000262805,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17343810200691223,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.3028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.565,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032349.4",
"gene_symbol": "NUDT16L1",
"hgnc_id": 28154,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.279G>C",
"hgvs_p": "p.Glu93Asp"
}
],
"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
}