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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: 12-65051449-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=65051449&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 65051449,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007191.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.His347Arg",
"transcript": "NM_007191.5",
"protein_id": "NP_009122.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 379,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286574.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007191.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.His347Arg",
"transcript": "ENST00000286574.9",
"protein_id": "ENSP00000286574.4",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 379,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007191.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286574.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.His337Arg",
"transcript": "ENST00000954483.1",
"protein_id": "ENSP00000624542.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954483.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.His337Arg",
"transcript": "ENST00000954485.1",
"protein_id": "ENSP00000624544.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954485.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "ENST00000904761.1",
"protein_id": "ENSP00000574820.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 357,
"cds_start": 974,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904761.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.His315Arg",
"transcript": "ENST00000904763.1",
"protein_id": "ENSP00000574822.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 944,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904763.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.His315Arg",
"transcript": "ENST00000904764.1",
"protein_id": "ENSP00000574823.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 944,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904764.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.His315Arg",
"transcript": "ENST00000954484.1",
"protein_id": "ENSP00000624543.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 944,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954484.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.His315Arg",
"transcript": "ENST00000954486.1",
"protein_id": "ENSP00000624545.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 347,
"cds_start": 944,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954486.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.His293Arg",
"transcript": "ENST00000904762.1",
"protein_id": "ENSP00000574821.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 325,
"cds_start": 878,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904762.1"
},
{
"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": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.His96Arg",
"transcript": "ENST00000543094.1",
"protein_id": "ENSP00000439024.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 128,
"cds_start": 287,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000198671",
"gene_hgnc_id": null,
"hgvs_c": "n.1036-2653T>C",
"hgvs_p": null,
"transcript": "ENST00000360528.3",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000360528.3"
}
],
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"dbsnp": "rs771969291",
"frequency_reference_population": 0.00003474976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000335784,
"gnomad_genomes_af": 0.0000459764,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15746146440505981,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0575,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.174,
"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_007191.5",
"gene_symbol": "WIF1",
"hgnc_id": 18081,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.His347Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360528.3",
"gene_symbol": "ENSG00000198671",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1036-2653T>C",
"hgvs_p": null
}
],
"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
}