← 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: 13-36335465-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36335465&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36335465,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_015087.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015087.5"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438666.7"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451493.5"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494062.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888927.1",
"protein_id": "ENSP00000558986.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 683,
"cds_start": 364,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888927.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142294.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142295.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142296.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355182.8"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650221.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888906.1",
"protein_id": "ENSP00000558965.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 4862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888906.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888908.1",
"protein_id": "ENSP00000558967.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888908.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888909.1",
"protein_id": "ENSP00000558968.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888909.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888910.1",
"protein_id": "ENSP00000558969.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888910.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888912.1",
"protein_id": "ENSP00000558971.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888912.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888913.1",
"protein_id": "ENSP00000558972.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888913.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888914.1",
"protein_id": "ENSP00000558973.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888914.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888916.1",
"protein_id": "ENSP00000558975.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888916.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888917.1",
"protein_id": "ENSP00000558976.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888917.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888918.1",
"protein_id": "ENSP00000558977.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888918.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888920.1",
"protein_id": "ENSP00000558979.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888920.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888921.1",
"protein_id": "ENSP00000558980.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888921.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888922.1",
"protein_id": "ENSP00000558981.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888922.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888931.1",
"protein_id": "ENSP00000558990.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888931.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888932.1",
"protein_id": "ENSP00000558991.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888932.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888933.1",
"protein_id": "ENSP00000558992.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888933.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888934.1",
"protein_id": "ENSP00000558993.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888934.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888935.1",
"protein_id": "ENSP00000558994.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888935.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888936.1",
"protein_id": "ENSP00000558995.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888936.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888937.1",
"protein_id": "ENSP00000558996.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888937.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888938.1",
"protein_id": "ENSP00000558997.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888938.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929601.1",
"protein_id": "ENSP00000599660.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929601.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929603.1",
"protein_id": "ENSP00000599662.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929603.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929605.1",
"protein_id": "ENSP00000599664.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929605.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929607.1",
"protein_id": "ENSP00000599666.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929607.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929609.1",
"protein_id": "ENSP00000599668.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929609.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961052.1",
"protein_id": "ENSP00000631111.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961052.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961058.1",
"protein_id": "ENSP00000631117.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961058.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888923.1",
"protein_id": "ENSP00000558982.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 662,
"cds_start": 364,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888923.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888929.1",
"protein_id": "ENSP00000558988.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 662,
"cds_start": 364,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888929.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929602.1",
"protein_id": "ENSP00000599661.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 662,
"cds_start": 364,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929602.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888907.1",
"protein_id": "ENSP00000558966.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888907.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888915.1",
"protein_id": "ENSP00000558974.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888915.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888926.1",
"protein_id": "ENSP00000558985.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888926.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888928.1",
"protein_id": "ENSP00000558987.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888928.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929606.1",
"protein_id": "ENSP00000599665.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929606.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929608.1",
"protein_id": "ENSP00000599667.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929608.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929611.1",
"protein_id": "ENSP00000599670.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929611.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961056.1",
"protein_id": "ENSP00000631115.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 656,
"cds_start": 364,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961056.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888925.1",
"protein_id": "ENSP00000558984.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 634,
"cds_start": 364,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888925.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929600.1",
"protein_id": "ENSP00000599659.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 634,
"cds_start": 364,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929600.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929604.1",
"protein_id": "ENSP00000599663.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 634,
"cds_start": 364,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929604.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000929610.1",
"protein_id": "ENSP00000599669.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 634,
"cds_start": 364,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929610.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961053.1",
"protein_id": "ENSP00000631112.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 634,
"cds_start": 364,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961053.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961055.1",
"protein_id": "ENSP00000631114.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 613,
"cds_start": 364,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961055.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888911.1",
"protein_id": "ENSP00000558970.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888911.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888919.1",
"protein_id": "ENSP00000558978.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888919.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888924.1",
"protein_id": "ENSP00000558983.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888924.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961054.1",
"protein_id": "ENSP00000631113.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961054.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000888930.1",
"protein_id": "ENSP00000558989.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 600,
"cds_start": 364,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888930.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "ENST00000961057.1",
"protein_id": "ENSP00000631116.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 548,
"cds_start": 364,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961057.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_005266313.6",
"protein_id": "XP_005266370.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266313.6"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_005266314.4",
"protein_id": "XP_005266371.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266314.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_005266315.4",
"protein_id": "XP_005266372.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266315.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_005266317.4",
"protein_id": "XP_005266374.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266317.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_011535012.3",
"protein_id": "XP_011533314.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 4811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535012.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_024449334.2",
"protein_id": "XP_024305102.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449334.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_047430209.1",
"protein_id": "XP_047286165.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430209.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_047430210.1",
"protein_id": "XP_047286166.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430210.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_047430211.1",
"protein_id": "XP_047286167.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430211.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_047430212.1",
"protein_id": "XP_047286168.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430212.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs",
"transcript": "XM_047430213.1",
"protein_id": "XP_047286169.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 364,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.562_563delAT",
"hgvs_p": null,
"transcript": "ENST00000494703.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.425_426delAT",
"hgvs_p": null,
"transcript": "ENST00000495510.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.536_537delAT",
"hgvs_p": null,
"transcript": "XR_007063671.1",
"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": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.*114_*115delAT",
"hgvs_p": null,
"transcript": "ENST00000476377.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 362,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476377.1"
}
],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs775736341",
"frequency_reference_population": 0.000045229244,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000403605,
"gnomad_genomes_af": 0.0000919987,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.381,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015087.5",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.364_365delAT",
"hgvs_p": "p.Met122fs"
}
],
"clinvar_disease": "Inborn genetic diseases,Neurodevelopmental delay,Troyer syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 US:1",
"phenotype_combined": "Troyer syndrome|Inborn genetic diseases|not provided|Neurodevelopmental delay",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}