← 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: 13-23330302-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23330302&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23330302,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000382292.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13574C>G",
"hgvs_p": "p.Thr4525Arg",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 4525,
"aa_end": null,
"aa_length": 4579,
"cds_start": 13574,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 14163,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13574C>G",
"hgvs_p": "p.Thr4525Arg",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 4525,
"aa_end": null,
"aa_length": 4579,
"cds_start": 13574,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 14163,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "NM_014363.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2432-818C>G",
"hgvs_p": null,
"transcript": "ENST00000455470.6",
"protein_id": "ENSP00000406565.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13601C>G",
"hgvs_p": "p.Thr4534Arg",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 4534,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13601,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 14190,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13601C>G",
"hgvs_p": "p.Thr4534Arg",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 4534,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13601,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 14240,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13133C>G",
"hgvs_p": "p.Thr4378Arg",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 4378,
"aa_end": null,
"aa_length": 4432,
"cds_start": 13133,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 13623,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.11324C>G",
"hgvs_p": "p.Thr3775Arg",
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": 3775,
"aa_end": null,
"aa_length": 3829,
"cds_start": 11324,
"cds_end": null,
"cds_length": 11490,
"cdna_start": 13658,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13625C>G",
"hgvs_p": "p.Thr4542Arg",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 4542,
"aa_end": null,
"aa_length": 4596,
"cds_start": 13625,
"cds_end": null,
"cds_length": 13791,
"cdna_start": 13662,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13601C>G",
"hgvs_p": "p.Thr4534Arg",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 4534,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13601,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 14411,
"cdna_end": null,
"cdna_length": 15883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13598C>G",
"hgvs_p": "p.Thr4533Arg",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
"transcript_support_level": null,
"aa_start": 4533,
"aa_end": null,
"aa_length": 4587,
"cds_start": 13598,
"cds_end": null,
"cds_length": 13764,
"cdna_start": 13635,
"cdna_end": null,
"cdna_length": 15107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13592C>G",
"hgvs_p": "p.Thr4531Arg",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
"transcript_support_level": null,
"aa_start": 4531,
"aa_end": null,
"aa_length": 4585,
"cds_start": 13592,
"cds_end": null,
"cds_length": 13758,
"cdna_start": 13738,
"cdna_end": null,
"cdna_length": 15210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13574C>G",
"hgvs_p": "p.Thr4525Arg",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 4525,
"aa_end": null,
"aa_length": 4579,
"cds_start": 13574,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 14384,
"cdna_end": null,
"cdna_length": 15856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13565C>G",
"hgvs_p": "p.Thr4522Arg",
"transcript": "XM_017020539.2",
"protein_id": "XP_016876028.1",
"transcript_support_level": null,
"aa_start": 4522,
"aa_end": null,
"aa_length": 4576,
"cds_start": 13565,
"cds_end": null,
"cds_length": 13731,
"cdna_start": 13711,
"cdna_end": null,
"cdna_length": 15183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13454C>G",
"hgvs_p": "p.Thr4485Arg",
"transcript": "XM_047430257.1",
"protein_id": "XP_047286213.1",
"transcript_support_level": null,
"aa_start": 4485,
"aa_end": null,
"aa_length": 4539,
"cds_start": 13454,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 14043,
"cdna_end": null,
"cdna_length": 15515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13454C>G",
"hgvs_p": "p.Thr4485Arg",
"transcript": "XM_047430258.1",
"protein_id": "XP_047286214.1",
"transcript_support_level": null,
"aa_start": 4485,
"aa_end": null,
"aa_length": 4539,
"cds_start": 13454,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 14264,
"cdna_end": null,
"cdna_length": 15736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13451C>G",
"hgvs_p": "p.Thr4484Arg",
"transcript": "XM_047430259.1",
"protein_id": "XP_047286215.1",
"transcript_support_level": null,
"aa_start": 4484,
"aa_end": null,
"aa_length": 4538,
"cds_start": 13451,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 13488,
"cdna_end": null,
"cdna_length": 14960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13445C>G",
"hgvs_p": "p.Thr4482Arg",
"transcript": "XM_047430260.1",
"protein_id": "XP_047286216.1",
"transcript_support_level": null,
"aa_start": 4482,
"aa_end": null,
"aa_length": 4536,
"cds_start": 13445,
"cds_end": null,
"cds_length": 13611,
"cdna_start": 13591,
"cdna_end": null,
"cdna_length": 15063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13427C>G",
"hgvs_p": "p.Thr4476Arg",
"transcript": "XM_047430261.1",
"protein_id": "XP_047286217.1",
"transcript_support_level": null,
"aa_start": 4476,
"aa_end": null,
"aa_length": 4530,
"cds_start": 13427,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 14016,
"cdna_end": null,
"cdna_length": 15488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13427C>G",
"hgvs_p": "p.Thr4476Arg",
"transcript": "XM_047430262.1",
"protein_id": "XP_047286218.1",
"transcript_support_level": null,
"aa_start": 4476,
"aa_end": null,
"aa_length": 4530,
"cds_start": 13427,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 14237,
"cdna_end": null,
"cdna_length": 15709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.13418C>G",
"hgvs_p": "p.Thr4473Arg",
"transcript": "XM_047430263.1",
"protein_id": "XP_047286219.1",
"transcript_support_level": null,
"aa_start": 4473,
"aa_end": null,
"aa_length": 4527,
"cds_start": 13418,
"cds_end": null,
"cds_length": 13584,
"cdna_start": 13564,
"cdna_end": null,
"cdna_length": 15036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6446-818C>G",
"hgvs_p": null,
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2170,
"cds_start": -4,
"cds_end": null,
"cds_length": 6513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2221-818C>G",
"hgvs_p": null,
"transcript": "ENST00000684385.1",
"protein_id": "ENSP00000507855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2319-350C>G",
"hgvs_p": null,
"transcript": "ENST00000683680.1",
"protein_id": "ENSP00000507223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2292-350C>G",
"hgvs_p": null,
"transcript": "ENST00000683489.1",
"protein_id": "ENSP00000508403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2204-818C>G",
"hgvs_p": null,
"transcript": "ENST00000684163.1",
"protein_id": "ENSP00000508262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2186-818C>G",
"hgvs_p": null,
"transcript": "ENST00000423156.2",
"protein_id": "ENSP00000390925.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2177-818C>G",
"hgvs_p": null,
"transcript": "ENST00000683367.1",
"protein_id": "ENSP00000507780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2186-18187C>G",
"hgvs_p": null,
"transcript": "ENST00000682775.1",
"protein_id": "ENSP00000508399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2185+23483C>G",
"hgvs_p": null,
"transcript": "ENST00000683210.1",
"protein_id": "ENSP00000506739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2186-7658C>G",
"hgvs_p": null,
"transcript": "ENST00000684497.1",
"protein_id": "ENSP00000507057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.4543-818C>G",
"hgvs_p": null,
"transcript": "ENST00000684196.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.2186-8628C>G",
"hgvs_p": null,
"transcript": "ENST00000684325.1",
"protein_id": "ENSP00000508121.1",
"transcript_support_level": null,
"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": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"dbsnp": "rs750412600",
"frequency_reference_population": 0.000002478189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5796564221382141,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.493,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1431,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.323,
"phylop100way_prediction": "Uncertain_significance",
"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,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000382292.9",
"gene_symbol": "SACS",
"hgnc_id": 10519,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13574C>G",
"hgvs_p": "p.Thr4525Arg"
}
],
"clinvar_disease": "Charlevoix-Saguenay spastic ataxia,Spastic paraplegia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Spastic paraplegia|Charlevoix-Saguenay spastic ataxia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}