← Back to variant description
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: 12-10071508-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10071508&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 10071508,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016511.4",
"consequences": [
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.His223Arg",
"transcript": "NM_016511.4",
"protein_id": "NP_057595.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 280,
"cds_start": 668,
"cds_end": null,
"cds_length": 843,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "ENST00000315330.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016511.4"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.His223Arg",
"transcript": "ENST00000315330.8",
"protein_id": "ENSP00000326407.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 280,
"cds_start": 668,
"cds_end": null,
"cds_length": 843,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "NM_016511.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315330.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.His250Arg",
"transcript": "ENST00000902292.1",
"protein_id": "ENSP00000572351.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 307,
"cds_start": 749,
"cds_end": null,
"cds_length": 924,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902292.1"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.His190Arg",
"transcript": "NM_001297748.2",
"protein_id": "NP_001284677.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 247,
"cds_start": 569,
"cds_end": null,
"cds_length": 744,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297748.2"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.His190Arg",
"transcript": "ENST00000457018.6",
"protein_id": "ENSP00000415048.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 247,
"cds_start": 569,
"cds_end": null,
"cds_length": 744,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457018.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.His135Arg",
"transcript": "NM_001297750.2",
"protein_id": "NP_001284679.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 192,
"cds_start": 404,
"cds_end": null,
"cds_length": 579,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297750.2"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.His135Arg",
"transcript": "NM_001297751.2",
"protein_id": "NP_001284680.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 192,
"cds_start": 404,
"cds_end": null,
"cds_length": 579,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297751.2"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.His131Arg",
"transcript": "NM_001297749.2",
"protein_id": "NP_001284678.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 188,
"cds_start": 392,
"cds_end": null,
"cds_length": 567,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297749.2"
},
{
"aa_ref": "H",
"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": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.His131Arg",
"transcript": "ENST00000420265.2",
"protein_id": "ENSP00000417010.2",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 188,
"cds_start": 392,
"cds_end": null,
"cds_length": 567,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420265.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC1A",
"gene_hgnc_id": 24355,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.His250Arg",
"transcript": "XM_011520687.3",
"protein_id": "XP_011518989.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 307,
"cds_start": 749,
"cds_end": null,
"cds_length": 924,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520687.3"
}
],
"gene_symbol": "CLEC1A",
"gene_hgnc_id": 24355,
"dbsnp": "rs777828931",
"frequency_reference_population": 0.0000050225763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000277667,
"gnomad_genomes_af": 0.000026275,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1126505434513092,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0746,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.641,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_016511.4",
"gene_symbol": "CLEC1A",
"hgnc_id": 24355,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.668A>G",
"hgvs_p": "p.His223Arg"
}
],
"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
}