← 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: 2-8808940-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=8808940&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 8808940,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001348729.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_020738.4",
"protein_id": "NP_065789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1771,
"cds_start": null,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256707.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020738.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000256707.8",
"protein_id": "ENSP00000256707.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1771,
"cds_start": null,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020738.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256707.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000319688.5",
"protein_id": "ENSP00000319947.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": null,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319688.5"
},
{
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*565-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000488729.5",
"protein_id": "ENSP00000417390.1",
"transcript_support_level": 1,
"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": "ENST00000488729.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348729.2",
"protein_id": "NP_001335658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": null,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348729.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000959946.1",
"protein_id": "ENSP00000630005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": null,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000959948.1",
"protein_id": "ENSP00000630007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1771,
"cds_start": null,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000691030.1",
"protein_id": "ENSP00000510148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1764,
"cds_start": null,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348731.2",
"protein_id": "NP_001335660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1753,
"cds_start": null,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348731.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000882910.1",
"protein_id": "ENSP00000552969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1753,
"cds_start": null,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000933256.1",
"protein_id": "ENSP00000603315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1753,
"cds_start": null,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348732.2",
"protein_id": "NP_001335661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": null,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000473731.5",
"protein_id": "ENSP00000418974.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": null,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473731.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000882909.1",
"protein_id": "ENSP00000552968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": null,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000933257.1",
"protein_id": "ENSP00000603316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1730,
"cds_start": null,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000959949.1",
"protein_id": "ENSP00000630008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1725,
"cds_start": null,
"cds_end": null,
"cds_length": 5178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348734.2",
"protein_id": "NP_001335663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1715,
"cds_start": null,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348734.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348735.2",
"protein_id": "NP_001335664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1714,
"cds_start": null,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000959947.1",
"protein_id": "ENSP00000630006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1708,
"cds_start": null,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.379-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348736.2",
"protein_id": "NP_001335665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1672,
"cds_start": null,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348736.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.379-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000685097.1",
"protein_id": "ENSP00000510510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1672,
"cds_start": null,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.181-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000687912.1",
"protein_id": "ENSP00000508455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": null,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000693432.1",
"protein_id": "ENSP00000510486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1373,
"cds_start": null,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348738.2",
"protein_id": "NP_001335667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": null,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000689852.1",
"protein_id": "ENSP00000510537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348739.2",
"protein_id": "NP_001335668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348739.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348740.2",
"protein_id": "NP_001335669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348740.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348741.2",
"protein_id": "NP_001335670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348741.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348742.2",
"protein_id": "NP_001335671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348742.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348743.2",
"protein_id": "NP_001335672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348743.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000689369.1",
"protein_id": "ENSP00000509856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000693394.1",
"protein_id": "ENSP00000509014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000489024.5",
"protein_id": "ENSP00000419964.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": null,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489024.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000686906.1",
"protein_id": "ENSP00000508907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1302,
"cds_start": null,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000692419.1",
"protein_id": "ENSP00000508523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": null,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000459813.2",
"protein_id": "ENSP00000419232.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": null,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.508-2571A>G",
"hgvs_p": null,
"transcript": "NM_001348745.2",
"protein_id": "NP_001335674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": null,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348745.2"
},
{
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000569008.2",
"protein_id": "ENSP00000491461.1",
"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": "ENST00000569008.2"
},
{
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.661-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000685274.1",
"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": "ENST00000685274.1"
},
{
"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": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.677-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000686179.1",
"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": "ENST00000686179.1"
},
{
"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": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.675-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000687240.1",
"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": "ENST00000687240.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.483-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000687526.1",
"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": "ENST00000687526.1"
},
{
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.508-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000687894.1",
"protein_id": "ENSP00000509577.1",
"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": "ENST00000687894.1"
},
{
"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": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.675-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000689114.1",
"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": "ENST00000689114.1"
},
{
"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": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.505-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000689531.1",
"protein_id": "ENSP00000509678.1",
"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": "ENST00000689531.1"
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.676-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000690607.1",
"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": "ENST00000690607.1"
},
{
"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": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.675-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000692889.1",
"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": "ENST00000692889.1"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.670-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000693249.1",
"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": "ENST00000693249.1"
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.1418-2571A>G",
"hgvs_p": null,
"transcript": "ENST00000693366.1",
"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": "ENST00000693366.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.678-2571A>G",
"hgvs_p": null,
"transcript": "NR_145964.2",
"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_145964.2"
},
{
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.675-2571A>G",
"hgvs_p": null,
"transcript": "NR_145965.2",
"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_145965.2"
}
],
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"dbsnp": "rs7587928",
"frequency_reference_population": 0.28998685,
"hom_count_reference_population": 6564,
"allele_count_reference_population": 44107,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.289987,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 44107,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6564,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.251,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001348729.2",
"gene_symbol": "KIDINS220",
"hgnc_id": 29508,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.508-2571A>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
}