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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: 18-46821017-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46821017&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46821017,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000585916.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr",
"transcript": "NM_004671.5",
"protein_id": "NP_004662.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 621,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 11243,
"mane_select": "ENST00000585916.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr",
"transcript": "ENST00000585916.6",
"protein_id": "ENSP00000465676.1",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 621,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 11243,
"mane_select": "NM_004671.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr",
"transcript": "ENST00000324794.11",
"protein_id": "ENSP00000317163.6",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 572,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "n.*930C>A",
"hgvs_p": null,
"transcript": "ENST00000398654.7",
"protein_id": "ENSP00000381648.3",
"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": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "n.*930C>A",
"hgvs_p": null,
"transcript": "ENST00000398654.7",
"protein_id": "ENSP00000381648.3",
"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": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr",
"transcript": "NM_001354034.2",
"protein_id": "NP_001340963.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 622,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 11246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324047.2",
"protein_id": "NP_001310976.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 613,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 11355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001354038.2",
"protein_id": "NP_001340967.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 613,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 11545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001354039.2",
"protein_id": "NP_001340968.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 613,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 11444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324048.2",
"protein_id": "NP_001310977.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 612,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 11441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324049.2",
"protein_id": "NP_001310978.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 612,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 11564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001354035.2",
"protein_id": "NP_001340964.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 612,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 11542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001354036.2",
"protein_id": "NP_001340965.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 612,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 11352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr",
"transcript": "NM_173206.4",
"protein_id": "NP_775298.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 572,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324046.2",
"protein_id": "NP_001310975.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 571,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 11415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324051.2",
"protein_id": "NP_001310980.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 563,
"cds_start": 1537,
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"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324052.2",
"protein_id": "NP_001310981.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 563,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324053.2",
"protein_id": "NP_001310982.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 563,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001324054.2",
"protein_id": "NP_001310983.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 563,
"cds_start": 1537,
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"cdna_start": 1815,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"transcript": "NM_001354033.2",
"protein_id": "NP_001340962.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 563,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Pro232Thr",
"transcript": "ENST00000545673.5",
"protein_id": "ENSP00000443238.1",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 282,
"cds_start": 694,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Pro561Thr",
"transcript": "XM_006722573.3",
"protein_id": "XP_006722636.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 611,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS2",
"gene_hgnc_id": 17311,
"hgvs_c": "n.1641C>A",
"hgvs_p": null,
"transcript": "NR_136684.2",
"protein_id": null,
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},
{
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},
{
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},
{
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},
{
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],
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},
{
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],
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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}
],
"gene_symbol": "PIAS2",
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"dbsnp": "rs1472124182",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03921428322792053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0586,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.739,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000585916.6",
"gene_symbol": "PIAS2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Pro522Thr"
}
],
"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
}