← 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: 14-58346465-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58346465&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58346465,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002892.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "NM_002892.4",
"protein_id": "NP_002883.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5864,
"mane_select": "ENST00000355431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002892.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "ENST00000355431.8",
"protein_id": "ENSP00000347602.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5864,
"mane_select": "NM_002892.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355431.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Lys23Arg",
"transcript": "ENST00000417477.2",
"protein_id": "ENSP00000416053.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 747,
"cds_start": 68,
"cds_end": null,
"cds_length": 2245,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417477.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "ENST00000941390.1",
"protein_id": "ENSP00000611449.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941390.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "NM_023000.3",
"protein_id": "NP_075376.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023000.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "ENST00000395168.7",
"protein_id": "ENSP00000378597.3",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395168.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "NM_023001.3",
"protein_id": "NP_075377.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023001.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "ENST00000348476.7",
"protein_id": "ENSP00000344556.3",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348476.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "ENST00000431317.6",
"protein_id": "ENSP00000397368.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431317.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "XM_005267964.3",
"protein_id": "XP_005268021.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267964.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "XM_047431652.1",
"protein_id": "XP_047287608.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431652.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "XM_005267965.3",
"protein_id": "XP_005268022.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1208,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267965.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.593A>G",
"hgvs_p": "p.Lys198Arg",
"transcript": "XM_047431653.1",
"protein_id": "XP_047287609.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1130,
"cds_start": 593,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431653.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Lys23Arg",
"transcript": "XM_047431654.1",
"protein_id": "XP_047287610.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 955,
"cds_start": 68,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431654.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg",
"transcript": "XM_047431656.1",
"protein_id": "XP_047287612.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 552,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"hgvs_c": "n.1237A>G",
"hgvs_p": null,
"transcript": "XR_001750495.2",
"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": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001750495.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TOMM20L-DT",
"gene_hgnc_id": 55443,
"hgvs_c": "n.656-6638T>C",
"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": 771,
"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.810-6638T>C",
"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": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000787365.1"
}
],
"gene_symbol": "ARID4A",
"gene_hgnc_id": 9885,
"dbsnp": "rs757363493",
"frequency_reference_population": 0.000016762899,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000130257,
"gnomad_genomes_af": 0.0000526177,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42552849650382996,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.367,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -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_002892.4",
"gene_symbol": "ARID4A",
"hgnc_id": 9885,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Lys345Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556390.2",
"gene_symbol": "TOMM20L-DT",
"hgnc_id": 55443,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.656-6638T>C",
"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
}