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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: 16-69711016-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69711016&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69711016,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000903.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg",
"transcript": "NM_000903.3",
"protein_id": "NP_000894.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 274,
"cds_start": 785,
"cds_end": null,
"cds_length": 825,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": "ENST00000320623.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000903.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg",
"transcript": "ENST00000320623.10",
"protein_id": "ENSP00000319788.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 274,
"cds_start": 785,
"cds_end": null,
"cds_length": 825,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": "NM_000903.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320623.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Lys241Arg",
"transcript": "ENST00000564043.1",
"protein_id": "ENSP00000455020.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 253,
"cds_start": 722,
"cds_end": null,
"cds_length": 762,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564043.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Lys228Arg",
"transcript": "ENST00000379047.7",
"protein_id": "ENSP00000368335.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 240,
"cds_start": 683,
"cds_end": null,
"cds_length": 723,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379047.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Lys224Arg",
"transcript": "ENST00000379046.6",
"protein_id": "ENSP00000368334.2",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 236,
"cds_start": 671,
"cds_end": null,
"cds_length": 711,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379046.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Lys228Arg",
"transcript": "NM_001025433.2",
"protein_id": "NP_001020604.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 240,
"cds_start": 683,
"cds_end": null,
"cds_length": 723,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025433.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Lys224Arg",
"transcript": "NM_001025434.2",
"protein_id": "NP_001020605.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 236,
"cds_start": 671,
"cds_end": null,
"cds_length": 711,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025434.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "NM_001286137.2",
"protein_id": "NP_001273066.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 569,
"cds_end": null,
"cds_length": 609,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286137.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000439109.6",
"protein_id": "ENSP00000398330.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 569,
"cds_end": null,
"cds_length": 609,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439109.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.612+59A>G",
"hgvs_p": null,
"transcript": "ENST00000561500.5",
"protein_id": "ENSP00000456282.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561500.5"
}
],
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"dbsnp": "rs1187548493",
"frequency_reference_population": 0.000002052194,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.358742356300354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.0969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.538,
"phylop100way_prediction": "Pathogenic",
"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_000903.3",
"gene_symbol": "NQO1",
"hgnc_id": 2874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg"
}
],
"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
}