← 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: 1-232425774-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=232425774&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 232425774,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020808.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "NM_020808.5",
"protein_id": "NP_065859.3",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5028,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "ENST00000674635.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020808.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000674635.1",
"protein_id": "ENSP00000502693.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5028,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "NM_020808.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674635.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4598C>G",
"hgvs_p": "p.Ser1533Trp",
"transcript": "ENST00000676213.1",
"protein_id": "ENSP00000501897.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4598,
"cds_end": null,
"cds_length": 5322,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676213.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4598C>G",
"hgvs_p": "p.Ser1533Trp",
"transcript": "ENST00000964479.1",
"protein_id": "ENSP00000634538.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4598,
"cds_end": null,
"cds_length": 5322,
"cdna_start": 5181,
"cdna_end": null,
"cdna_length": 7060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964479.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000366630.5",
"protein_id": "ENSP00000355589.1",
"transcript_support_level": 5,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4804,
"cdna_end": null,
"cdna_length": 6690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366630.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883509.1",
"protein_id": "ENSP00000553568.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4834,
"cdna_end": null,
"cdna_length": 7057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883509.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930083.1",
"protein_id": "ENSP00000600142.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 6854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930083.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964476.1",
"protein_id": "ENSP00000634535.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5092,
"cdna_end": null,
"cdna_length": 7298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964476.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964481.1",
"protein_id": "ENSP00000634540.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5049,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964481.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964483.1",
"protein_id": "ENSP00000634542.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5066,
"cdna_end": null,
"cdna_length": 6946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964483.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964495.1",
"protein_id": "ENSP00000634554.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4946,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964495.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "NM_001377488.1",
"protein_id": "NP_001364417.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4830,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377488.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000674749.1",
"protein_id": "ENSP00000502328.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5273,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674749.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000675407.1",
"protein_id": "ENSP00000502580.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675407.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000675685.1",
"protein_id": "ENSP00000501553.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4830,
"cdna_end": null,
"cdna_length": 6637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675685.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883504.1",
"protein_id": "ENSP00000553563.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4914,
"cdna_end": null,
"cdna_length": 6746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883504.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883505.1",
"protein_id": "ENSP00000553564.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 6779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883505.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883506.1",
"protein_id": "ENSP00000553565.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4932,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883506.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883507.1",
"protein_id": "ENSP00000553566.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4892,
"cdna_end": null,
"cdna_length": 7067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883507.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883508.1",
"protein_id": "ENSP00000553567.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5015,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883508.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000883510.1",
"protein_id": "ENSP00000553569.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883510.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930079.1",
"protein_id": "ENSP00000600138.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5006,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930079.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930080.1",
"protein_id": "ENSP00000600139.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5048,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930080.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930081.1",
"protein_id": "ENSP00000600140.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5071,
"cdna_end": null,
"cdna_length": 6897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930081.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930082.1",
"protein_id": "ENSP00000600141.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5261,
"cdna_end": null,
"cdna_length": 7093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930082.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000930085.1",
"protein_id": "ENSP00000600144.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5038,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930085.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964474.1",
"protein_id": "ENSP00000634533.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5006,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964474.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964475.1",
"protein_id": "ENSP00000634534.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4886,
"cdna_end": null,
"cdna_length": 6697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964475.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964477.1",
"protein_id": "ENSP00000634536.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5197,
"cdna_end": null,
"cdna_length": 7185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964477.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964478.1",
"protein_id": "ENSP00000634537.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5192,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964478.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964480.1",
"protein_id": "ENSP00000634539.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 7030,
"cdna_end": null,
"cdna_length": 8858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964480.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964482.1",
"protein_id": "ENSP00000634541.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5134,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964482.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964488.1",
"protein_id": "ENSP00000634547.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5161,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964488.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964493.1",
"protein_id": "ENSP00000634552.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5094,
"cdna_end": null,
"cdna_length": 6188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964493.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964494.1",
"protein_id": "ENSP00000634553.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4953,
"cdna_end": null,
"cdna_length": 6779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964494.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4442C>G",
"hgvs_p": "p.Ser1481Trp",
"transcript": "ENST00000964487.1",
"protein_id": "ENSP00000634546.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4442,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 5017,
"cdna_end": null,
"cdna_length": 6828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964487.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4442C>G",
"hgvs_p": "p.Ser1481Trp",
"transcript": "ENST00000964489.1",
"protein_id": "ENSP00000634548.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4442,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 5225,
"cdna_end": null,
"cdna_length": 7051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964489.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4442C>G",
"hgvs_p": "p.Ser1481Trp",
"transcript": "ENST00000964492.1",
"protein_id": "ENSP00000634551.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4442,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 5092,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964492.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964490.1",
"protein_id": "ENSP00000634549.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 4973,
"cdna_end": null,
"cdna_length": 6721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964490.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4355C>G",
"hgvs_p": "p.Ser1452Trp",
"transcript": "ENST00000930084.1",
"protein_id": "ENSP00000600143.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1674,
"cds_start": 4355,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930084.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4355C>G",
"hgvs_p": "p.Ser1452Trp",
"transcript": "ENST00000964484.1",
"protein_id": "ENSP00000634543.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1674,
"cds_start": 4355,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 5002,
"cdna_end": null,
"cdna_length": 6828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964484.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "ENST00000964486.1",
"protein_id": "ENSP00000634545.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4445,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964486.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4187C>G",
"hgvs_p": "p.Ser1396Trp",
"transcript": "ENST00000964485.1",
"protein_id": "ENSP00000634544.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4708,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964485.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4187C>G",
"hgvs_p": "p.Ser1396Trp",
"transcript": "ENST00000964491.1",
"protein_id": "ENSP00000634550.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4707,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964491.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.1667C>G",
"hgvs_p": "p.Ser556Trp",
"transcript": "ENST00000308942.4",
"protein_id": "ENSP00000309102.4",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 778,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308942.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_005273213.5",
"protein_id": "XP_005273270.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4979,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273213.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_017001896.2",
"protein_id": "XP_016857385.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4830,
"cdna_end": null,
"cdna_length": 6716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001896.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426139.1",
"protein_id": "XP_047282095.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 28638,
"cdna_end": null,
"cdna_length": 30524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426139.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426140.1",
"protein_id": "XP_047282096.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5709,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426140.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426141.1",
"protein_id": "XP_047282097.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426141.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426142.1",
"protein_id": "XP_047282098.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426142.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426143.1",
"protein_id": "XP_047282099.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 8938,
"cdna_end": null,
"cdna_length": 10824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426143.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426144.1",
"protein_id": "XP_047282100.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5660,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426144.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp",
"transcript": "XM_047426145.1",
"protein_id": "XP_047282101.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4445,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4769,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "n.*2067C>G",
"hgvs_p": null,
"transcript": "ENST00000674801.1",
"protein_id": "ENSP00000502186.1",
"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": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "n.*2067C>G",
"hgvs_p": null,
"transcript": "ENST00000674801.1",
"protein_id": "ENSP00000502186.1",
"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": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674801.1"
}
],
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"dbsnp": "rs184013125",
"frequency_reference_population": 0.00000410486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410486,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4771653115749359,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4387,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.482,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020808.5",
"gene_symbol": "SIPA1L2",
"hgnc_id": 23800,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Ser1482Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}