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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: 2-170965956-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=170965956&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GORASP2",
"hgnc_id": 17500,
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_015530.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 4973,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1185,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_015530.5",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234160.5",
"protein_coding": true,
"protein_id": "NP_056345.3",
"strand": true,
"transcript": "NM_015530.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1185,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000234160.5",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015530.5",
"protein_coding": true,
"protein_id": "ENSP00000234160.4",
"strand": true,
"transcript": "ENST00000234160.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 458,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871667.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1203C>G",
"hgvs_p": "p.Ser401Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541726.1",
"strand": true,
"transcript": "ENST00000871667.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1182,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000972174.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1182C>G",
"hgvs_p": "p.Ser394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642233.1",
"strand": true,
"transcript": "ENST00000972174.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871663.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1179C>G",
"hgvs_p": "p.Ser393Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541722.1",
"strand": true,
"transcript": "ENST00000871663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "S",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1173,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000972176.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.Ser391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642235.1",
"strand": true,
"transcript": "ENST00000972176.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 433,
"aa_ref": "S",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1128,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871669.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1128C>G",
"hgvs_p": "p.Ser376Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541728.1",
"strand": true,
"transcript": "ENST00000871669.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 425,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1104,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871666.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1104C>G",
"hgvs_p": "p.Ser368Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541725.1",
"strand": true,
"transcript": "ENST00000871666.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000871668.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ser366Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541727.1",
"strand": true,
"transcript": "ENST00000871668.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000917130.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ser366Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587189.1",
"strand": true,
"transcript": "ENST00000917130.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000972175.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ser366Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642234.1",
"strand": true,
"transcript": "ENST00000972175.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 419,
"aa_ref": "S",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1086,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871664.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.1086C>G",
"hgvs_p": "p.Ser362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541723.1",
"strand": true,
"transcript": "ENST00000871664.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1164,
"cds_start": 990,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000871665.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.990C>G",
"hgvs_p": "p.Ser330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541724.1",
"strand": true,
"transcript": "ENST00000871665.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 384,
"aa_ref": "S",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1155,
"cds_start": 981,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001201428.2",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "c.981C>G",
"hgvs_p": "p.Ser327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188357.1",
"strand": true,
"transcript": "NM_001201428.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000442798.5",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "n.*1217C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399889.1",
"strand": true,
"transcript": "ENST00000442798.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000486498.1",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "n.1451C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000486498.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000442798.5",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "n.*1217C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399889.1",
"strand": true,
"transcript": "ENST00000442798.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493692.5",
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"hgvs_c": "n.*65C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493692.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs4668356",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0030813902,
"gene_hgnc_id": 17500,
"gene_symbol": "GORASP2",
"gnomad_exomes_ac": 4655,
"gnomad_exomes_af": 0.00318431,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_ac": 318,
"gnomad_genomes_af": 0.00209175,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 12,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.387,
"pos": 170965956,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07000000029802322,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.07,
"transcript": "NM_015530.5"
}
]
}