← 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: 2-178461056-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178461056&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PJVK",
"hgnc_id": 29502,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Pro284Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001353775.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0841,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21468979120254517,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001042702.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644580.2",
"protein_coding": true,
"protein_id": "NP_001036167.1",
"strand": true,
"transcript": "NM_001042702.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644580.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042702.5",
"protein_coding": true,
"protein_id": "ENSP00000495855.2",
"strand": true,
"transcript": "ENST00000644580.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375129.8",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364271.4",
"strand": true,
"transcript": "ENST00000375129.8",
"transcript_support_level": 1
},
{
"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": 1942,
"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": "ENST00000437056.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "n.1711C>A",
"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": "ENST00000437056.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1068,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353775.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Pro284Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340704.1",
"strand": true,
"transcript": "NM_001353775.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1065,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001353776.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.847C>A",
"hgvs_p": "p.Pro283Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340705.1",
"strand": true,
"transcript": "NM_001353776.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369912.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356841.1",
"strand": true,
"transcript": "NM_001369912.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970493.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640552.1",
"strand": true,
"transcript": "ENST00000970493.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1059,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970494.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Pro281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640553.1",
"strand": true,
"transcript": "ENST00000970494.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 299,
"aa_ref": "P",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 901,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000645572.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.742C>A",
"hgvs_p": "p.Pro248Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494301.1",
"strand": true,
"transcript": "ENST00000645572.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353777.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340706.1",
"strand": true,
"transcript": "NM_001353777.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353778.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340707.1",
"strand": true,
"transcript": "NM_001353778.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 833,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642192.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494225.1",
"strand": true,
"transcript": "ENST00000642192.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642492.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496267.1",
"strand": true,
"transcript": "ENST00000642492.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645817.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495731.1",
"strand": true,
"transcript": "ENST00000645817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 193,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 951,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647226.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Pro122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496024.1",
"strand": true,
"transcript": "ENST00000647226.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 387,
"aa_ref": "P",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1164,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017004221.3",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.946C>A",
"hgvs_p": "p.Pro316Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859710.1",
"strand": true,
"transcript": "XM_017004221.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000442710.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.*96C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410776.1",
"strand": true,
"transcript": "ENST00000442710.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 56,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 471,
"cdna_start": null,
"cds_end": null,
"cds_length": 171,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642762.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.*71C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496028.1",
"strand": true,
"transcript": "ENST00000642762.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377275979",
"effect": "missense_variant",
"frequency_reference_population": 6.840759e-7,
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84076e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.221,
"pos": 178461056,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.05,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001353775.2"
}
]
}