← 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: 12-98781200-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98781200&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98781200,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001352186.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro",
"transcript": "NM_001352186.2",
"protein_id": "NP_001339115.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683438.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352186.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro",
"transcript": "ENST00000683438.2",
"protein_id": "ENSP00000508105.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352186.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683438.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3283T>C",
"hgvs_p": "p.Ser1095Pro",
"transcript": "ENST00000547776.6",
"protein_id": "ENSP00000449629.2",
"transcript_support_level": 1,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547776.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1831T>C",
"hgvs_p": "p.Ser611Pro",
"transcript": "ENST00000547010.5",
"protein_id": "ENSP00000448512.1",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 764,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547010.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1096T>C",
"hgvs_p": "p.Ser366Pro",
"transcript": "ENST00000550778.5",
"protein_id": "ENSP00000448744.1",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 531,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550778.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1033T>C",
"hgvs_p": "p.Ser345Pro",
"transcript": "ENST00000549493.6",
"protein_id": "ENSP00000448203.2",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 510,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549493.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "ENST00000546960.5",
"protein_id": "ENSP00000447839.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 460,
"cds_start": 961,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546960.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Ser285Pro",
"transcript": "ENST00000550693.6",
"protein_id": "ENSP00000447999.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 450,
"cds_start": 853,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550693.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "ENST00000546568.5",
"protein_id": "ENSP00000448205.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 426,
"cds_start": 781,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546568.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "ENST00000549558.6",
"protein_id": "ENSP00000448993.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 414,
"cds_start": 781,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549558.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Ser193Pro",
"transcript": "ENST00000549025.6",
"protein_id": "ENSP00000447312.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 357,
"cds_start": 577,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549025.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3355T>C",
"hgvs_p": "p.Ser1119Pro",
"transcript": "NM_001352188.1",
"protein_id": "NP_001339117.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352188.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3283T>C",
"hgvs_p": "p.Ser1095Pro",
"transcript": "NM_001352187.1",
"protein_id": "NP_001339116.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352187.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3283T>C",
"hgvs_p": "p.Ser1095Pro",
"transcript": "NM_001352185.1",
"protein_id": "NP_001339114.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352185.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3283T>C",
"hgvs_p": "p.Ser1095Pro",
"transcript": "NM_152788.4",
"protein_id": "NP_690001.3",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152788.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Ser346Pro",
"transcript": "NM_001352198.2",
"protein_id": "NP_001339127.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 511,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352198.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Ser346Pro",
"transcript": "NM_001352205.2",
"protein_id": "NP_001339134.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 510,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352205.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1033T>C",
"hgvs_p": "p.Ser345Pro",
"transcript": "NM_181670.4",
"protein_id": "NP_858056.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 510,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181670.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1033T>C",
"hgvs_p": "p.Ser345Pro",
"transcript": "NM_001352195.2",
"protein_id": "NP_001339124.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 509,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352195.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1033T>C",
"hgvs_p": "p.Ser345Pro",
"transcript": "NM_001352196.2",
"protein_id": "NP_001339125.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 498,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352196.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "NM_001352204.2",
"protein_id": "NP_001339133.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 486,
"cds_start": 961,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352204.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1036T>C",
"hgvs_p": "p.Ser346Pro",
"transcript": "NM_001352200.2",
"protein_id": "NP_001339129.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 485,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352200.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "NM_001352202.2",
"protein_id": "NP_001339131.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 485,
"cds_start": 961,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352202.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.940T>C",
"hgvs_p": "p.Ser314Pro",
"transcript": "NM_001352189.1",
"protein_id": "NP_001339118.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 479,
"cds_start": 940,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352189.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.943T>C",
"hgvs_p": "p.Ser315Pro",
"transcript": "NM_001352190.1",
"protein_id": "NP_001339119.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 479,
"cds_start": 943,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352190.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "NM_001352197.2",
"protein_id": "NP_001339126.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 474,
"cds_start": 961,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352197.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "NM_001204068.2",
"protein_id": "NP_001190997.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 460,
"cds_start": 961,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204068.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Ser285Pro",
"transcript": "NM_001204069.2",
"protein_id": "NP_001190998.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 450,
"cds_start": 853,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204069.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Ser285Pro",
"transcript": "NM_001352206.2",
"protein_id": "NP_001339135.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 449,
"cds_start": 853,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352206.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.790T>C",
"hgvs_p": "p.Ser264Pro",
"transcript": "NM_001352193.2",
"protein_id": "NP_001339122.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 429,
"cds_start": 790,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352193.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.790T>C",
"hgvs_p": "p.Ser264Pro",
"transcript": "NM_001352192.2",
"protein_id": "NP_001339121.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 428,
"cds_start": 790,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352192.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "NM_001204070.2",
"protein_id": "NP_001190999.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 426,
"cds_start": 781,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204070.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "NM_001352199.2",
"protein_id": "NP_001339128.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 425,
"cds_start": 781,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352199.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"transcript": "NM_001352203.2",
"protein_id": "NP_001339132.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 415,
"cds_start": 748,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352203.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"transcript": "NM_020140.4",
"protein_id": "NP_064525.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 414,
"cds_start": 781,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020140.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Ser230Pro",
"transcript": "NM_001204067.2",
"protein_id": "NP_001190996.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 394,
"cds_start": 688,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204067.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Ser230Pro",
"transcript": "ENST00000547446.5",
"protein_id": "ENSP00000450015.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 394,
"cds_start": 688,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547446.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Ser225Pro",
"transcript": "NM_001352194.2",
"protein_id": "NP_001339123.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 390,
"cds_start": 673,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352194.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Ser225Pro",
"transcript": "NM_001352201.2",
"protein_id": "NP_001339130.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 389,
"cds_start": 673,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352201.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.610T>C",
"hgvs_p": "p.Ser204Pro",
"transcript": "NM_001352191.2",
"protein_id": "NP_001339120.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 610,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352191.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Ser193Pro",
"transcript": "NM_001204066.2",
"protein_id": "NP_001190995.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 357,
"cds_start": 577,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204066.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Ser126Pro",
"transcript": "NM_001352219.2",
"protein_id": "NP_001339148.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 291,
"cds_start": 376,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352219.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "NM_001204065.2",
"protein_id": "NP_001190994.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 290,
"cds_start": 373,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204065.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Ser126Pro",
"transcript": "NM_001204079.2",
"protein_id": "NP_001191008.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 290,
"cds_start": 376,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204079.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "NM_001352208.2",
"protein_id": "NP_001339137.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 289,
"cds_start": 373,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352208.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "NM_001352222.2",
"protein_id": "NP_001339151.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 289,
"cds_start": 373,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352222.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "ENST00000333732.11",
"protein_id": "ENSP00000331256.7",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 289,
"cds_start": 373,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333732.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Ser126Pro",
"transcript": "NM_001352223.2",
"protein_id": "NP_001339152.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 279,
"cds_start": 376,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352223.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "NM_001204080.2",
"protein_id": "NP_001191009.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 266,
"cds_start": 301,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204080.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "NM_001352207.2",
"protein_id": "NP_001339136.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 266,
"cds_start": 301,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352207.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "NM_001352209.2",
"protein_id": "NP_001339138.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 265,
"cds_start": 301,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352209.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "NM_001352221.2",
"protein_id": "NP_001339150.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 265,
"cds_start": 301,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352221.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "NM_001204081.2",
"protein_id": "NP_001191010.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 254,
"cds_start": 301,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204081.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.301T>C",
"hgvs_p": "p.Ser101Pro",
"transcript": "ENST00000341752.11",
"protein_id": "ENSP00000345510.6",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 254,
"cds_start": 301,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341752.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.226T>C",
"hgvs_p": "p.Ser76Pro",
"transcript": "NM_001352225.2",
"protein_id": "NP_001339154.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 241,
"cds_start": 226,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352225.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.226T>C",
"hgvs_p": "p.Ser76Pro",
"transcript": "NM_001352210.2",
"protein_id": "NP_001339139.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 240,
"cds_start": 226,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352210.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352211.2",
"protein_id": "NP_001339140.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 191,
"cds_start": 76,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352211.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352212.2",
"protein_id": "NP_001339141.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 191,
"cds_start": 76,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352212.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352218.2",
"protein_id": "NP_001339147.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 191,
"cds_start": 76,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352218.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352220.2",
"protein_id": "NP_001339149.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 191,
"cds_start": 76,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352220.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352224.2",
"protein_id": "NP_001339153.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 191,
"cds_start": 76,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352224.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352217.2",
"protein_id": "NP_001339146.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 190,
"cds_start": 76,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352217.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352213.2",
"protein_id": "NP_001339142.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 179,
"cds_start": 76,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352213.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352214.2",
"protein_id": "NP_001339143.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 179,
"cds_start": 76,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352214.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Ser26Pro",
"transcript": "NM_001352216.2",
"protein_id": "NP_001339145.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 179,
"cds_start": 76,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352216.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Ser124Pro",
"transcript": "ENST00000546364.7",
"protein_id": "ENSP00000473522.2",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 150,
"cds_start": 370,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546364.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3355T>C",
"hgvs_p": "p.Ser1119Pro",
"transcript": "XM_006719504.5",
"protein_id": "XP_006719567.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719504.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro",
"transcript": "XM_006719505.5",
"protein_id": "XP_006719568.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719505.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3346T>C",
"hgvs_p": "p.Ser1116Pro",
"transcript": "XM_017019652.3",
"protein_id": "XP_016875141.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3346,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019652.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro",
"transcript": "XM_006719507.5",
"protein_id": "XP_006719570.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719507.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro",
"transcript": "XM_006719508.5",
"protein_id": "XP_006719571.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719508.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3271T>C",
"hgvs_p": "p.Ser1091Pro",
"transcript": "XM_005269029.6",
"protein_id": "XP_005269086.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269029.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3256T>C",
"hgvs_p": "p.Ser1086Pro",
"transcript": "XM_011538571.4",
"protein_id": "XP_011536873.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3256,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538571.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3283T>C",
"hgvs_p": "p.Ser1095Pro",
"transcript": "XM_006719510.5",
"protein_id": "XP_006719573.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719510.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3103T>C",
"hgvs_p": "p.Ser1035Pro",
"transcript": "XM_006719512.5",
"protein_id": "XP_006719575.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719512.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3103T>C",
"hgvs_p": "p.Ser1035Pro",
"transcript": "XM_006719513.5",
"protein_id": "XP_006719576.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719513.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3091T>C",
"hgvs_p": "p.Ser1031Pro",
"transcript": "XM_006719514.5",
"protein_id": "XP_006719577.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719514.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2254T>C",
"hgvs_p": "p.Ser752Pro",
"transcript": "XM_024449061.2",
"protein_id": "XP_024304829.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 917,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449061.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Ser700Pro",
"transcript": "XM_024449060.2",
"protein_id": "XP_024304828.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 865,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449060.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Ser700Pro",
"transcript": "XM_047429165.1",
"protein_id": "XP_047285121.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 865,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429165.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Ser700Pro",
"transcript": "XM_047429166.1",
"protein_id": "XP_047285122.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 865,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429166.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2098T>C",
"hgvs_p": "p.Ser700Pro",
"transcript": "XM_047429167.1",
"protein_id": "XP_047285123.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 865,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429167.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.943T>C",
"hgvs_p": "p.Ser315Pro",
"transcript": "XM_024449065.2",
"protein_id": "XP_024304833.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 480,
"cds_start": 943,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449065.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.931T>C",
"hgvs_p": "p.Ser311Pro",
"transcript": "XM_047429168.1",
"protein_id": "XP_047285124.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 476,
"cds_start": 931,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429168.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "XM_024449069.2",
"protein_id": "XP_024304837.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 454,
"cds_start": 865,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449069.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "XM_047429169.1",
"protein_id": "XP_047285125.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 454,
"cds_start": 865,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429169.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Ser125Pro",
"transcript": "XM_047429170.1",
"protein_id": "XP_047285126.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 290,
"cds_start": 373,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "n.309T>C",
"hgvs_p": null,
"transcript": "ENST00000547362.5",
"protein_id": "ENSP00000473277.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547362.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "n.13T>C",
"hgvs_p": null,
"transcript": "ENST00000549315.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549315.1"
}
],
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"dbsnp": null,
"frequency_reference_population": 0.0000042311444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000423114,
"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": 0.7362087368965149,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.424,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.252,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001352186.2",
"gene_symbol": "ANKS1B",
"hgnc_id": 24600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3358T>C",
"hgvs_p": "p.Ser1120Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}