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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: 12-65055155-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=65055155&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 65055155,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_007191.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.981A>G",
"hgvs_p": "p.Gln327Gln",
"transcript": "NM_007191.5",
"protein_id": "NP_009122.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 379,
"cds_start": 981,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "ENST00000286574.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007191.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.981A>G",
"hgvs_p": "p.Gln327Gln",
"transcript": "ENST00000286574.9",
"protein_id": "ENSP00000286574.4",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 379,
"cds_start": 981,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "NM_007191.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286574.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.951A>G",
"hgvs_p": "p.Gln317Gln",
"transcript": "ENST00000954483.1",
"protein_id": "ENSP00000624542.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 369,
"cds_start": 951,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954483.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.951A>G",
"hgvs_p": "p.Gln317Gln",
"transcript": "ENST00000954485.1",
"protein_id": "ENSP00000624544.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 369,
"cds_start": 951,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954485.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.915A>G",
"hgvs_p": "p.Gln305Gln",
"transcript": "ENST00000904761.1",
"protein_id": "ENSP00000574820.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 357,
"cds_start": 915,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904761.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.885A>G",
"hgvs_p": "p.Gln295Gln",
"transcript": "ENST00000904763.1",
"protein_id": "ENSP00000574822.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 347,
"cds_start": 885,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904763.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.885A>G",
"hgvs_p": "p.Gln295Gln",
"transcript": "ENST00000904764.1",
"protein_id": "ENSP00000574823.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 347,
"cds_start": 885,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904764.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.885A>G",
"hgvs_p": "p.Gln295Gln",
"transcript": "ENST00000954484.1",
"protein_id": "ENSP00000624543.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 347,
"cds_start": 885,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954484.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.819A>G",
"hgvs_p": "p.Gln273Gln",
"transcript": "ENST00000904762.1",
"protein_id": "ENSP00000574821.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 325,
"cds_start": 819,
"cds_end": null,
"cds_length": 978,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904762.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.228A>G",
"hgvs_p": "p.Gln76Gln",
"transcript": "ENST00000543094.1",
"protein_id": "ENSP00000439024.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 128,
"cds_start": 228,
"cds_end": null,
"cds_length": 387,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543094.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"hgvs_c": "c.922+876A>G",
"hgvs_p": null,
"transcript": "ENST00000954486.1",
"protein_id": "ENSP00000624545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954486.1"
}
],
"gene_symbol": "WIF1",
"gene_hgnc_id": 18081,
"dbsnp": "rs147528205",
"frequency_reference_population": 0.00093669037,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1512,
"gnomad_exomes_af": 0.000918025,
"gnomad_genomes_af": 0.00111578,
"gnomad_exomes_ac": 1342,
"gnomad_genomes_ac": 170,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.893,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_007191.5",
"gene_symbol": "WIF1",
"hgnc_id": 18081,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.981A>G",
"hgvs_p": "p.Gln327Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}