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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: 10-34119614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=34119614&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 34119614,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001184785.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Arg1223Trp",
"transcript": "NM_001184785.2",
"protein_id": "NP_001171714.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "ENST00000374788.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Arg1223Trp",
"transcript": "ENST00000374788.8",
"protein_id": "ENSP00000363920.3",
"transcript_support_level": 1,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "NM_001184785.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3676C>T",
"hgvs_p": "p.Arg1226Trp",
"transcript": "ENST00000374789.8",
"protein_id": "ENSP00000363921.3",
"transcript_support_level": 1,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "ENST00000545693.5",
"protein_id": "ENSP00000443147.1",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3958,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3565C>T",
"hgvs_p": "p.Arg1189Trp",
"transcript": "ENST00000346874.9",
"protein_id": "ENSP00000340591.4",
"transcript_support_level": 1,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3538C>T",
"hgvs_p": "p.Arg1180Trp",
"transcript": "ENST00000350537.9",
"protein_id": "ENSP00000311986.6",
"transcript_support_level": 1,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3538,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3406C>T",
"hgvs_p": "p.Arg1136Trp",
"transcript": "ENST00000545260.5",
"protein_id": "ENSP00000440857.1",
"transcript_support_level": 1,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Trp",
"transcript": "ENST00000374794.8",
"protein_id": "ENSP00000363926.3",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3340,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3676C>T",
"hgvs_p": "p.Arg1226Trp",
"transcript": "NM_019619.4",
"protein_id": "NP_062565.2",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "NM_001184786.2",
"protein_id": "NP_001171715.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3595C>T",
"hgvs_p": "p.Arg1199Trp",
"transcript": "ENST00000696673.1",
"protein_id": "ENSP00000512797.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3595,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 4280,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3565C>T",
"hgvs_p": "p.Arg1189Trp",
"transcript": "NM_001184787.2",
"protein_id": "NP_001171716.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3538C>T",
"hgvs_p": "p.Arg1180Trp",
"transcript": "NM_001184788.2",
"protein_id": "NP_001171717.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3538,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3496C>T",
"hgvs_p": "p.Arg1166Trp",
"transcript": "ENST00000374790.8",
"protein_id": "ENSP00000363922.3",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3427C>T",
"hgvs_p": "p.Arg1143Trp",
"transcript": "NM_001184789.2",
"protein_id": "NP_001171718.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3406C>T",
"hgvs_p": "p.Arg1136Trp",
"transcript": "NM_001184790.2",
"protein_id": "NP_001171719.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Trp",
"transcript": "NM_001184791.2",
"protein_id": "NP_001171720.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3340,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"dbsnp": "rs765436377",
"frequency_reference_population": 0.00004752905,
"hom_count_reference_population": 1,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000483858,
"gnomad_genomes_af": 0.0000393913,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4822704493999481,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4560000002384186,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.9017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.542,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0101137038393627,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001184785.2",
"gene_symbol": "PARD3",
"hgnc_id": 16051,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Arg1223Trp"
}
],
"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
}