← 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: 11-17427157-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17427157&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17427157,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001351295.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2117-3C>G",
"hgvs_p": null,
"transcript": "NM_000352.6",
"protein_id": "NP_000343.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389817.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000352.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2117-3C>G",
"hgvs_p": null,
"transcript": "ENST00000389817.8",
"protein_id": "ENSP00000374467.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000352.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389817.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2183-3C>G",
"hgvs_p": null,
"transcript": "NM_001351295.2",
"protein_id": "NP_001338224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": null,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351295.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644772.1",
"protein_id": "ENSP00000494321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": null,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2117-3C>G",
"hgvs_p": null,
"transcript": "NM_001287174.3",
"protein_id": "NP_001274103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": null,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287174.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2117-3C>G",
"hgvs_p": null,
"transcript": "ENST00000302539.9",
"protein_id": "ENSP00000303960.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": null,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302539.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "NM_001351296.2",
"protein_id": "NP_001338225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "NM_001351297.2",
"protein_id": "NP_001338226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": null,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351297.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": null,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646902.1",
"protein_id": "ENSP00000494101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1570,
"cds_start": null,
"cds_end": null,
"cds_length": 4713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683136.1",
"protein_id": "ENSP00000507768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1542,
"cds_start": null,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.1958-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684571.1",
"protein_id": "ENSP00000506935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1528,
"cds_start": null,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.1865-3C>G",
"hgvs_p": null,
"transcript": "ENST00000647015.1",
"protein_id": "ENSP00000495389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": null,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.197-3C>G",
"hgvs_p": null,
"transcript": "ENST00000642579.1",
"protein_id": "ENSP00000496714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.1786-3C>G",
"hgvs_p": null,
"transcript": "ENST00000524561.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000524561.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2087-3C>G",
"hgvs_p": null,
"transcript": "ENST00000527905.5",
"protein_id": "ENSP00000431653.1",
"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": "ENST00000527905.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.376-3C>G",
"hgvs_p": null,
"transcript": "ENST00000529967.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000529967.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.228-3C>G",
"hgvs_p": null,
"transcript": "ENST00000531911.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000531911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000642611.2",
"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": "retained_intron",
"feature": "ENST00000642611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*255-3C>G",
"hgvs_p": null,
"transcript": "ENST00000642902.1",
"protein_id": "ENSP00000493601.1",
"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": "ENST00000642902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*93-3C>G",
"hgvs_p": null,
"transcript": "ENST00000643562.1",
"protein_id": "ENSP00000496124.1",
"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": "ENST00000643562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.53-3C>G",
"hgvs_p": null,
"transcript": "ENST00000643925.1",
"protein_id": "ENSP00000495697.1",
"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": "ENST00000643925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.470-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644447.1",
"protein_id": "ENSP00000496282.1",
"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": "ENST00000644447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*478-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644472.1",
"protein_id": "ENSP00000495378.1",
"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": "ENST00000644472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*326-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644484.1",
"protein_id": "ENSP00000493558.1",
"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": "ENST00000644484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*1819-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644542.1",
"protein_id": "ENSP00000495532.1",
"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": "ENST00000644542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*286-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644675.1",
"protein_id": "ENSP00000494567.1",
"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": "ENST00000644675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*419-3C>G",
"hgvs_p": null,
"transcript": "ENST00000644757.1",
"protein_id": "ENSP00000495085.1",
"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": "ENST00000644757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.1367-3C>G",
"hgvs_p": null,
"transcript": "ENST00000645076.1",
"protein_id": "ENSP00000494791.1",
"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": "ENST00000645076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*478-3C>G",
"hgvs_p": null,
"transcript": "ENST00000645744.1",
"protein_id": "ENSP00000494564.1",
"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": "ENST00000645744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*533-3C>G",
"hgvs_p": null,
"transcript": "ENST00000645760.1",
"protein_id": "ENSP00000496309.1",
"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": "ENST00000645760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000645884.1",
"protein_id": "ENSP00000495516.1",
"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": "ENST00000645884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*255-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646003.1",
"protein_id": "ENSP00000495259.1",
"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": "ENST00000646003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*478-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646207.1",
"protein_id": "ENSP00000495025.1",
"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": "ENST00000646207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*387-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646276.1",
"protein_id": "ENSP00000496070.1",
"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": "ENST00000646276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*445-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646592.1",
"protein_id": "ENSP00000494407.1",
"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": "ENST00000646592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*513-3C>G",
"hgvs_p": null,
"transcript": "ENST00000646993.1",
"protein_id": "ENSP00000493720.1",
"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": "ENST00000646993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*545-3C>G",
"hgvs_p": null,
"transcript": "ENST00000647013.1",
"protein_id": "ENSP00000496741.1",
"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": "ENST00000647013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*1844-3C>G",
"hgvs_p": null,
"transcript": "ENST00000647086.1",
"protein_id": "ENSP00000493677.1",
"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": "ENST00000647086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*255-3C>G",
"hgvs_p": null,
"transcript": "ENST00000647158.1",
"protein_id": "ENSP00000495744.1",
"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": "ENST00000647158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2130-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682051.1",
"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": "retained_intron",
"feature": "ENST00000682051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682110.1",
"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": "retained_intron",
"feature": "ENST00000682110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682140.1",
"protein_id": "ENSP00000507829.1",
"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": "ENST00000682140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.3422-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682185.1",
"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": "retained_intron",
"feature": "ENST00000682185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*255-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682204.1",
"protein_id": "ENSP00000507094.1",
"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": "ENST00000682204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682215.1",
"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": "retained_intron",
"feature": "ENST00000682215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*545-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682288.1",
"protein_id": "ENSP00000507506.1",
"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": "ENST00000682288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2304-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682442.1",
"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": "retained_intron",
"feature": "ENST00000682442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682528.1",
"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": "retained_intron",
"feature": "ENST00000682528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2130-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682673.1",
"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": "retained_intron",
"feature": "ENST00000682673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682805.1",
"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": "retained_intron",
"feature": "ENST00000682805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682965.1",
"protein_id": "ENSP00000508229.1",
"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": "ENST00000682965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2285-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683093.1",
"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": "retained_intron",
"feature": "ENST00000683093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2342-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683153.1",
"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": "retained_intron",
"feature": "ENST00000683153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.3199-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683253.1",
"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": "retained_intron",
"feature": "ENST00000683253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2285-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683365.1",
"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": "retained_intron",
"feature": "ENST00000683365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683377.1",
"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": "retained_intron",
"feature": "ENST00000683377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2114-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683456.1",
"protein_id": "ENSP00000508318.1",
"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": "ENST00000683456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683522.1",
"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": "retained_intron",
"feature": "ENST00000683522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*286-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683562.1",
"protein_id": "ENSP00000508265.1",
"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": "ENST00000683562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683693.1",
"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": "retained_intron",
"feature": "ENST00000683693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2117-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683725.1",
"protein_id": "ENSP00000507496.1",
"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": "ENST00000683725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684010.1",
"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": "retained_intron",
"feature": "ENST00000684010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684157.1",
"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": "retained_intron",
"feature": "ENST00000684157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2089-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684253.1",
"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": "retained_intron",
"feature": "ENST00000684253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*286-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684288.1",
"protein_id": "ENSP00000507143.1",
"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": "ENST00000684288.1"
},
{
"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": 32,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.1724-10195C>G",
"hgvs_p": null,
"transcript": "ENST00000684313.1",
"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": "retained_intron",
"feature": "ENST00000684313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2256-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684332.1",
"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": "retained_intron",
"feature": "ENST00000684332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2289-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684371.1",
"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": "retained_intron",
"feature": "ENST00000684371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684404.1",
"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": "retained_intron",
"feature": "ENST00000684404.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684442.1",
"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": "retained_intron",
"feature": "ENST00000684442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*326-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684555.1",
"protein_id": "ENSP00000507705.1",
"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": "ENST00000684555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*1822-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684593.1",
"protein_id": "ENSP00000507005.1",
"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": "ENST00000684593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*513-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684711.1",
"protein_id": "ENSP00000506841.1",
"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": "ENST00000684711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2183-3C>G",
"hgvs_p": null,
"transcript": "NR_147094.2",
"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_147094.2"
}
],
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"dbsnp": "rs1799854",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9279999732971191,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.817,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.93,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999937569709944,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001351295.2",
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR,SD,Unknown",
"hgvs_c": "c.2183-3C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}