← 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: 2-8731898-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=8731898&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 8731898,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000256707.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4138C>T",
"hgvs_p": "p.Gln1380*",
"transcript": "NM_020738.4",
"protein_id": "NP_065789.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4138,
"cds_end": null,
"cds_length": 5316,
"cdna_start": 4308,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "ENST00000256707.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4138C>T",
"hgvs_p": "p.Gln1380*",
"transcript": "ENST00000256707.8",
"protein_id": "ENSP00000256707.4",
"transcript_support_level": 1,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4138,
"cds_end": null,
"cds_length": 5316,
"cdna_start": 4308,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": "NM_020738.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*4027C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*4027C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4141C>T",
"hgvs_p": "p.Gln1381*",
"transcript": "NM_001348729.2",
"protein_id": "NP_001335658.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4141,
"cds_end": null,
"cds_length": 5319,
"cdna_start": 4311,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4117C>T",
"hgvs_p": "p.Gln1373*",
"transcript": "ENST00000691030.1",
"protein_id": "ENSP00000510148.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4117,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4287,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4084C>T",
"hgvs_p": "p.Gln1362*",
"transcript": "NM_001348731.2",
"protein_id": "NP_001335660.1",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4084,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 4254,
"cdna_end": null,
"cdna_length": 7294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4081C>T",
"hgvs_p": "p.Gln1361*",
"transcript": "NM_001348732.2",
"protein_id": "NP_001335661.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4081,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 7291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4081C>T",
"hgvs_p": "p.Gln1361*",
"transcript": "ENST00000473731.5",
"protein_id": "ENSP00000418974.1",
"transcript_support_level": 5,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4081,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3970C>T",
"hgvs_p": "p.Gln1324*",
"transcript": "NM_001348734.2",
"protein_id": "NP_001335663.1",
"transcript_support_level": null,
"aa_start": 1324,
"aa_end": null,
"aa_length": 1715,
"cds_start": 3970,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 4140,
"cdna_end": null,
"cdna_length": 7180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3967C>T",
"hgvs_p": "p.Gln1323*",
"transcript": "NM_001348735.2",
"protein_id": "NP_001335664.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1714,
"cds_start": 3967,
"cds_end": null,
"cds_length": 5145,
"cdna_start": 4137,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3841C>T",
"hgvs_p": "p.Gln1281*",
"transcript": "NM_001348736.2",
"protein_id": "NP_001335665.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1672,
"cds_start": 3841,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 4308,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3841C>T",
"hgvs_p": "p.Gln1281*",
"transcript": "ENST00000685097.1",
"protein_id": "ENSP00000510510.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1672,
"cds_start": 3841,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 3988,
"cdna_end": null,
"cdna_length": 7008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3643C>T",
"hgvs_p": "p.Gln1215*",
"transcript": "ENST00000687912.1",
"protein_id": "ENSP00000508455.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3643,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.4023C>T",
"hgvs_p": null,
"transcript": "ENST00000686383.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*1510C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.*26C>T",
"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": -4,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*1510C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4053+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3996+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3915+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3885+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3885+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.3123+1546C>T",
"hgvs_p": null,
"transcript": "ENST00000496383.5",
"protein_id": "ENSP00000420364.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.3882+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.861+1546C>T",
"hgvs_p": null,
"transcript": "ENST00000693597.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.4226+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.4052+1546C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.*55C>T",
"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": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"dbsnp": "rs1553305080",
"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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.356,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000256707.8",
"gene_symbol": "KIDINS220",
"hgnc_id": 29508,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4138C>T",
"hgvs_p": "p.Gln1380*"
}
],
"clinvar_disease": " and obesity, intellectual disability, nystagmus,Spastic paraplegia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Spastic paraplegia, intellectual disability, nystagmus, and obesity",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}