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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: 16-67284339-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67284339&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67284339,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379344.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "NM_001129729.3",
"protein_id": "NP_001123201.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "ENST00000379344.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "ENST00000379344.8",
"protein_id": "ENSP00000368649.3",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "NM_001129729.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1331A>G",
"hgvs_p": "p.Asp444Gly",
"transcript": "ENST00000450733.5",
"protein_id": "ENSP00000398030.1",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*1080A>G",
"hgvs_p": null,
"transcript": "ENST00000393966.1",
"protein_id": "ENSP00000462601.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*1080A>G",
"hgvs_p": null,
"transcript": "ENST00000393966.1",
"protein_id": "ENSP00000462601.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "NM_001129727.3",
"protein_id": "NP_001123199.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "NM_001129728.2",
"protein_id": "NP_001123200.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "ENST00000360461.9",
"protein_id": "ENSP00000353646.5",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 4109,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "ENST00000427155.6",
"protein_id": "ENSP00000401118.2",
"transcript_support_level": 5,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1331A>G",
"hgvs_p": "p.Asp444Gly",
"transcript": "NM_001129731.3",
"protein_id": "NP_001123203.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "XM_011522985.3",
"protein_id": "XP_011521287.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "XM_011522986.3",
"protein_id": "XP_011521288.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "XM_011522987.3",
"protein_id": "XP_011521289.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "XM_011522988.3",
"protein_id": "XP_011521290.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047433893.1",
"protein_id": "XP_047289849.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047433894.1",
"protein_id": "XP_047289850.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047433895.1",
"protein_id": "XP_047289851.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047433896.1",
"protein_id": "XP_047289852.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047433897.1",
"protein_id": "XP_047289853.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly",
"transcript": "XM_047433898.1",
"protein_id": "XP_047289854.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1574,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Asp332Gly",
"transcript": "XM_047433899.1",
"protein_id": "XP_047289855.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 964,
"cds_start": 995,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*1159A>G",
"hgvs_p": null,
"transcript": "ENST00000563969.5",
"protein_id": "ENSP00000457086.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*1159A>G",
"hgvs_p": null,
"transcript": "ENST00000563969.5",
"protein_id": "ENSP00000457086.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"dbsnp": "rs8044843",
"frequency_reference_population": 0.13680969,
"hom_count_reference_population": 26330,
"allele_count_reference_population": 220694,
"gnomad_exomes_af": 0.12438,
"gnomad_genomes_af": 0.256535,
"gnomad_exomes_ac": 181773,
"gnomad_genomes_ac": 38921,
"gnomad_exomes_homalt": 17145,
"gnomad_genomes_homalt": 9185,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000003837582880805712,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.793,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379344.8",
"gene_symbol": "PLEKHG4",
"hgnc_id": 24501,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asp525Gly"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}