← 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: 7-70790514-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=70790514&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 70790514,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3298C>G",
"hgvs_p": "p.Pro1100Ala",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4477,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3298C>G",
"hgvs_p": "p.Pro1100Ala",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4477,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3226C>G",
"hgvs_p": "p.Pro1076Ala",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3961,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3295C>G",
"hgvs_p": "p.Pro1099Ala",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4653,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3226C>G",
"hgvs_p": "p.Pro1076Ala",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4405,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2554C>G",
"hgvs_p": "p.Pro852Ala",
"transcript": "ENST00000611706.4",
"protein_id": "ENSP00000478134.1",
"transcript_support_level": 5,
"aa_start": 852,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2482C>G",
"hgvs_p": "p.Pro828Ala",
"transcript": "ENST00000615871.4",
"protein_id": "ENSP00000479325.1",
"transcript_support_level": 5,
"aa_start": 828,
"aa_end": null,
"aa_length": 987,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2161C>G",
"hgvs_p": "p.Pro721Ala",
"transcript": "ENST00000647140.1",
"protein_id": "ENSP00000494226.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 880,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "ENST00000644506.1",
"protein_id": "ENSP00000496672.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 801,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3320,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1879C>G",
"hgvs_p": "p.Pro627Ala",
"transcript": "ENST00000644359.1",
"protein_id": "ENSP00000494561.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 786,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3319C>G",
"hgvs_p": "p.Pro1107Ala",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3319,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3316C>G",
"hgvs_p": "p.Pro1106Ala",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3316,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4495,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3295C>G",
"hgvs_p": "p.Pro1099Ala",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3253C>G",
"hgvs_p": "p.Pro1085Ala",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 4432,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3250C>G",
"hgvs_p": "p.Pro1084Ala",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4429,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3247C>G",
"hgvs_p": "p.Pro1083Ala",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 4426,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3223C>G",
"hgvs_p": "p.Pro1075Ala",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3217C>G",
"hgvs_p": "p.Pro1073Ala",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4396,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3196C>G",
"hgvs_p": "p.Pro1066Ala",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3193C>G",
"hgvs_p": "p.Pro1065Ala",
"transcript": "XM_047420158.1",
"protein_id": "XP_047276114.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 4372,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3181C>G",
"hgvs_p": "p.Pro1061Ala",
"transcript": "XM_047420159.1",
"protein_id": "XP_047276115.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3178C>G",
"hgvs_p": "p.Pro1060Ala",
"transcript": "XM_047420160.1",
"protein_id": "XP_047276116.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 4357,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3151C>G",
"hgvs_p": "p.Pro1051Ala",
"transcript": "XM_047420161.1",
"protein_id": "XP_047276117.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 4330,
"cdna_end": null,
"cdna_length": 7322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3148C>G",
"hgvs_p": "p.Pro1050Ala",
"transcript": "XM_047420162.1",
"protein_id": "XP_047276118.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3148,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 4327,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2845C>G",
"hgvs_p": "p.Pro949Ala",
"transcript": "XM_011516017.3",
"protein_id": "XP_011514319.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 6124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2842C>G",
"hgvs_p": "p.Pro948Ala",
"transcript": "XM_047420163.1",
"protein_id": "XP_047276119.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2824C>G",
"hgvs_p": "p.Pro942Ala",
"transcript": "XM_047420164.1",
"protein_id": "XP_047276120.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2821C>G",
"hgvs_p": "p.Pro941Ala",
"transcript": "XM_047420165.1",
"protein_id": "XP_047276121.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2821,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 3108,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2818C>G",
"hgvs_p": "p.Pro940Ala",
"transcript": "XM_011516018.3",
"protein_id": "XP_011514320.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3064,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2797C>G",
"hgvs_p": "p.Pro933Ala",
"transcript": "XM_047420166.1",
"protein_id": "XP_047276122.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 4263,
"cdna_end": null,
"cdna_length": 7255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2797C>G",
"hgvs_p": "p.Pro933Ala",
"transcript": "XM_047420167.1",
"protein_id": "XP_047276123.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2797C>G",
"hgvs_p": "p.Pro933Ala",
"transcript": "XM_047420168.1",
"protein_id": "XP_047276124.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2770C>G",
"hgvs_p": "p.Pro924Ala",
"transcript": "XM_047420169.1",
"protein_id": "XP_047276125.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1945C>G",
"hgvs_p": "p.Pro649Ala",
"transcript": "XM_005250257.3",
"protein_id": "XP_005250314.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 808,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "XM_047420170.1",
"protein_id": "XP_047276126.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 801,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "XM_047420171.1",
"protein_id": "XP_047276127.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 801,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3320,
"cdna_end": null,
"cdna_length": 6312,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "n.*1074C>G",
"hgvs_p": null,
"transcript": "ENST00000700075.1",
"protein_id": "ENSP00000514784.1",
"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": 1943,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "n.*1074C>G",
"hgvs_p": null,
"transcript": "ENST00000700075.1",
"protein_id": "ENSP00000514784.1",
"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": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"dbsnp": "rs763284520",
"frequency_reference_population": 0.0000049655578,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000411238,
"gnomad_genomes_af": 0.0000131501,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16978409886360168,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.1606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.041,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000342771.10",
"gene_symbol": "AUTS2",
"hgnc_id": 14262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3298C>G",
"hgvs_p": "p.Pro1100Ala"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}