← 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: 14-58359132-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58359132&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58359132,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002892.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "NM_002892.4",
"protein_id": "NP_002883.3",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002892.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "ENST00000355431.8",
"protein_id": "ENSP00000347602.3",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002892.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355431.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Arg296Ser",
"transcript": "ENST00000417477.2",
"protein_id": "ENSP00000416053.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 747,
"cds_start": 888,
"cds_end": null,
"cds_length": 2245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417477.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "ENST00000941390.1",
"protein_id": "ENSP00000611449.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941390.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "NM_023000.3",
"protein_id": "NP_075376.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023000.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "ENST00000395168.7",
"protein_id": "ENSP00000378597.3",
"transcript_support_level": 5,
"aa_start": 618,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395168.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "NM_023001.3",
"protein_id": "NP_075377.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023001.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "ENST00000348476.7",
"protein_id": "ENSP00000344556.3",
"transcript_support_level": 5,
"aa_start": 618,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348476.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "ENST00000431317.6",
"protein_id": "ENSP00000397368.2",
"transcript_support_level": 5,
"aa_start": 618,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431317.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "XM_005267964.3",
"protein_id": "XP_005268021.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267964.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "XM_047431652.1",
"protein_id": "XP_047287608.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431652.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser",
"transcript": "XM_005267965.3",
"protein_id": "XP_005268022.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1208,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267965.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "XM_047431653.1",
"protein_id": "XP_047287609.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1413,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431653.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Arg296Ser",
"transcript": "XM_047431654.1",
"protein_id": "XP_047287610.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 955,
"cds_start": 888,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431654.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.147G>T",
"hgvs_p": "p.Arg49Ser",
"transcript": "XM_047431655.1",
"protein_id": "XP_047287611.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 708,
"cds_start": 147,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "n.403G>T",
"hgvs_p": null,
"transcript": "ENST00000469635.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000469635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "n.579G>T",
"hgvs_p": null,
"transcript": "ENST00000553355.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000553355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TOMM20L-DT",
"gene_hgnc_id": 55443,
"hgvs_c": "n.655+10820C>A",
"hgvs_p": null,
"transcript": "ENST00000556390.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000556390.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TOMM20L-DT",
"gene_hgnc_id": 55443,
"hgvs_c": "n.809+10820C>A",
"hgvs_p": null,
"transcript": "ENST00000787365.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000787365.1"
}
],
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"dbsnp": "rs2035018997",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000137765,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.622439980506897,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6240000128746033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.98,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.664724988416042,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_002892.4",
"gene_symbol": "ARID4A",
"hgnc_id": 9885,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Arg618Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556390.2",
"gene_symbol": "TOMM20L-DT",
"hgnc_id": 55443,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.655+10820C>A",
"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
}