← 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: 10-72133059-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72133059&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72133059,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001198799.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001198800.3",
"protein_id": "NP_001185729.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672957.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198800.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000672957.1",
"protein_id": "ENSP00000500935.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001198800.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672957.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "NM_001198799.3",
"protein_id": "NP_001185728.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 400,
"cds_start": 953,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198799.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "ENST00000342444.8",
"protein_id": "ENSP00000339404.4",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 400,
"cds_start": 953,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342444.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "ENST00000394915.7",
"protein_id": "ENSP00000378373.3",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 400,
"cds_start": 953,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394915.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Asn312Ser",
"transcript": "NM_001369085.1",
"protein_id": "NP_001356014.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 394,
"cds_start": 935,
"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_001369085.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "ENST00000902262.1",
"protein_id": "ENSP00000572321.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 385,
"cds_start": 953,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902262.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Asn312Ser",
"transcript": "NM_001369086.1",
"protein_id": "NP_001356015.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 382,
"cds_start": 935,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369086.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Asn310Ser",
"transcript": "ENST00000672774.1",
"protein_id": "ENSP00000500488.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672774.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Asn310Ser",
"transcript": "ENST00000957305.1",
"protein_id": "ENSP00000627364.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 929,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957305.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369087.1",
"protein_id": "NP_001356016.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 372,
"cds_start": 869,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369087.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369088.1",
"protein_id": "NP_001356017.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 372,
"cds_start": 869,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369088.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369089.1",
"protein_id": "NP_001356018.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 372,
"cds_start": 869,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369089.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369090.1",
"protein_id": "NP_001356019.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 869,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369090.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369091.1",
"protein_id": "NP_001356020.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 869,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369091.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369092.1",
"protein_id": "NP_001356021.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 869,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369092.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001198798.2",
"protein_id": "NP_001185727.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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_001198798.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369093.1",
"protein_id": "NP_001356022.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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_001369093.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369094.1",
"protein_id": "NP_001356023.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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_001369094.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369095.1",
"protein_id": "NP_001356024.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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_001369095.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000317126.8",
"protein_id": "ENSP00000320461.4",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000317126.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000902261.1",
"protein_id": "ENSP00000572320.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000902261.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000902263.1",
"protein_id": "ENSP00000572322.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000902263.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000902264.1",
"protein_id": "ENSP00000572323.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000902264.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000911756.1",
"protein_id": "ENSP00000581815.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000911756.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "ENST00000957304.1",
"protein_id": "ENSP00000627363.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 357,
"cds_start": 869,
"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": "ENST00000957304.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369096.1",
"protein_id": "NP_001356025.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 347,
"cds_start": 869,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369096.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369097.1",
"protein_id": "NP_001356026.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 347,
"cds_start": 869,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369097.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369098.1",
"protein_id": "NP_001356027.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 347,
"cds_start": 869,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369098.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "NM_001369099.1",
"protein_id": "NP_001356028.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 339,
"cds_start": 815,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369099.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369100.1",
"protein_id": "NP_001356029.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 332,
"cds_start": 749,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369100.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"transcript": "NM_001369101.1",
"protein_id": "NP_001356030.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 321,
"cds_start": 752,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369101.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"transcript": "NM_001369102.1",
"protein_id": "NP_001356031.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 321,
"cds_start": 752,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369102.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369103.1",
"protein_id": "NP_001356032.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 320,
"cds_start": 749,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369103.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369104.1",
"protein_id": "NP_001356033.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 320,
"cds_start": 749,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369104.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"transcript": "NM_001369105.1",
"protein_id": "NP_001356034.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 318,
"cds_start": 752,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369105.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"transcript": "NM_001369106.1",
"protein_id": "NP_001356035.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 318,
"cds_start": 752,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369106.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Asn251Ser",
"transcript": "NM_001369107.1",
"protein_id": "NP_001356036.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 318,
"cds_start": 752,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369107.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369108.1",
"protein_id": "NP_001356037.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 317,
"cds_start": 749,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369108.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369109.1",
"protein_id": "NP_001356038.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 317,
"cds_start": 749,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369109.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000672940.1",
"protein_id": "ENSP00000500074.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 317,
"cds_start": 749,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672940.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000902260.1",
"protein_id": "ENSP00000572319.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 317,
"cds_start": 749,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902260.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369110.1",
"protein_id": "NP_001356039.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 292,
"cds_start": 869,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369110.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "NM_001369111.1",
"protein_id": "NP_001356040.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 292,
"cds_start": 869,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369111.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Asn221Ser",
"transcript": "ENST00000486689.6",
"protein_id": "ENSP00000431299.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 291,
"cds_start": 662,
"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": "ENST00000486689.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "NM_001369112.1",
"protein_id": "NP_001356041.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 252,
"cds_start": 749,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369112.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asn250Ser",
"transcript": "ENST00000317168.11",
"protein_id": "ENSP00000320810.7",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 252,
"cds_start": 749,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317168.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.656A>G",
"hgvs_p": "p.Asn219Ser",
"transcript": "ENST00000672121.1",
"protein_id": "ENSP00000500771.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 221,
"cds_start": 656,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672121.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.437A>G",
"hgvs_p": "p.Asn146Ser",
"transcript": "ENST00000525286.6",
"protein_id": "ENSP00000435147.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 216,
"cds_start": 437,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525286.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Asn87Ser",
"transcript": "ENST00000530394.5",
"protein_id": "ENSP00000436409.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 144,
"cds_start": 260,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530394.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Asn312Ser",
"transcript": "XM_024448032.2",
"protein_id": "XP_024303800.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 369,
"cds_start": 935,
"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": "XM_024448032.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_047425256.1",
"protein_id": "XP_047281212.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 354,
"cds_start": 815,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425256.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_047425257.1",
"protein_id": "XP_047281213.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 342,
"cds_start": 815,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425257.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_047425258.1",
"protein_id": "XP_047281214.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 329,
"cds_start": 815,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425258.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Asn312Ser",
"transcript": "XM_047425259.1",
"protein_id": "XP_047281215.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 314,
"cds_start": 935,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425259.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_047425261.1",
"protein_id": "XP_047281217.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 274,
"cds_start": 815,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.1405A>G",
"hgvs_p": null,
"transcript": "ENST00000534259.1",
"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": "retained_intron",
"feature": "ENST00000534259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.869A>G",
"hgvs_p": null,
"transcript": "ENST00000671788.1",
"protein_id": "ENSP00000500906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000671788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.*775A>G",
"hgvs_p": null,
"transcript": "ENST00000673599.1",
"protein_id": "ENSP00000499820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.1216A>G",
"hgvs_p": null,
"transcript": "NR_045564.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.*775A>G",
"hgvs_p": null,
"transcript": "ENST00000673599.1",
"protein_id": "ENSP00000499820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"hgvs_c": "n.297+19810A>G",
"hgvs_p": null,
"transcript": "ENST00000672809.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000672809.1"
}
],
"gene_symbol": "ASCC1",
"gene_hgnc_id": 24268,
"dbsnp": "rs146370051",
"frequency_reference_population": 0.0020117995,
"hom_count_reference_population": 3,
"allele_count_reference_population": 3247,
"gnomad_exomes_af": 0.00208801,
"gnomad_genomes_af": 0.0012804,
"gnomad_exomes_ac": 3052,
"gnomad_genomes_ac": 195,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004810541868209839,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.926,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000672817507734988,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001198799.3",
"gene_symbol": "ASCC1",
"hgnc_id": 24268,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser"
}
],
"clinvar_disease": "BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA,Spinal muscular atrophy with congenital bone fractures 2,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA|not specified|Spinal muscular atrophy with congenital bone fractures 2|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}