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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: 16-67282331-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67282331&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67282331,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379344.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "NM_001129729.3",
"protein_id": "NP_001123201.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "ENST00000379344.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "ENST00000379344.8",
"protein_id": "ENSP00000368649.3",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "NM_001129729.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Thr331Asn",
"transcript": "ENST00000450733.5",
"protein_id": "ENSP00000398030.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 1110,
"cds_start": 992,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1448,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*741C>A",
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*741C>A",
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "NM_001129727.3",
"protein_id": "NP_001123199.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "NM_001129728.2",
"protein_id": "NP_001123200.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "ENST00000360461.9",
"protein_id": "ENSP00000353646.5",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 3770,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "ENST00000427155.6",
"protein_id": "ENSP00000401118.2",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Thr331Asn",
"transcript": "NM_001129731.3",
"protein_id": "NP_001123203.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1110,
"cds_start": 992,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "XM_011522985.3",
"protein_id": "XP_011521287.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "XM_011522986.3",
"protein_id": "XP_011521288.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "XM_011522987.3",
"protein_id": "XP_011521289.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "XM_011522988.3",
"protein_id": "XP_011521290.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Asn",
"transcript": "XM_047433893.1",
"protein_id": "XP_047289849.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Asn",
"transcript": "XM_047433894.1",
"protein_id": "XP_047289850.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Asn",
"transcript": "XM_047433895.1",
"protein_id": "XP_047289851.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Asn",
"transcript": "XM_047433896.1",
"protein_id": "XP_047289852.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Asn",
"transcript": "XM_047433897.1",
"protein_id": "XP_047289853.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn",
"transcript": "XM_047433898.1",
"protein_id": "XP_047289854.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1235,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "XM_047433899.1",
"protein_id": "XP_047289855.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 964,
"cds_start": 656,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 1736,
"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": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*820C>A",
"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": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
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}
],
"gene_symbol": "PLEKHG4",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12432670593261719,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.195,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000379344.8",
"gene_symbol": "PLEKHG4",
"hgnc_id": 24501,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Thr412Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}