← 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: 2-151535784-TTTATAC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151535784&ref=TTTATAC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151535784,
"ref": "TTTATAC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8525,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8560,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.16110_16115delGTATAA",
"hgvs_p": "p.Tyr5371_Lys5372del",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 5370,
"aa_end": null,
"aa_length": 6669,
"cds_start": 16110,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 16307,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 115,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.16110_16115delGTATAA",
"hgvs_p": "p.Tyr5371_Lys5372del",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 5370,
"aa_end": null,
"aa_length": 6669,
"cds_start": 16110,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 16318,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.5403_5408delGTATAA",
"hgvs_p": "p.Tyr1802_Lys1803del",
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": 1801,
"aa_end": null,
"aa_length": 3007,
"cds_start": 5403,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 5408,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.4062_4067delGTATAA",
"hgvs_p": "p.Tyr1355_Lys1356del",
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 2426,
"cds_start": 4062,
"cds_end": null,
"cds_length": 7281,
"cdna_start": 4069,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.870_875delGTATAA",
"hgvs_p": "p.Tyr291_Lys292del",
"transcript": "ENST00000434685.6",
"protein_id": "ENSP00000389074.2",
"transcript_support_level": 5,
"aa_start": 290,
"aa_end": null,
"aa_length": 1294,
"cds_start": 870,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8494,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8488,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25467,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8463,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8457,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25374,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246599.3",
"protein_id": "XP_005246656.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8432,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25299,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246601.3",
"protein_id": "XP_005246658.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8401,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246602.3",
"protein_id": "XP_005246659.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8401,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444478.1",
"protein_id": "XP_047300434.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8401,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25206,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246604.3",
"protein_id": "XP_005246661.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246606.3",
"protein_id": "XP_005246663.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_006712541.3",
"protein_id": "XP_006712604.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_006712542.3",
"protein_id": "XP_006712605.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004179.2",
"protein_id": "XP_016859668.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 177,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004180.2",
"protein_id": "XP_016859669.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8370,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25113,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 176,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246608.3",
"protein_id": "XP_005246665.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8339,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25020,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 176,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004181.2",
"protein_id": "XP_016859670.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8339,
"cds_start": 21213,
"cds_end": null,
"cds_length": 25020,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246610.3",
"protein_id": "XP_005246667.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8308,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246611.3",
"protein_id": "XP_005246668.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8308,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004182.2",
"protein_id": "XP_016859671.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8308,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 175,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444479.1",
"protein_id": "XP_047300435.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8308,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24927,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 138,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.20484_20489delGTATAA",
"hgvs_p": "p.Tyr6829_Lys6830del",
"transcript": "XM_005246612.3",
"protein_id": "XP_005246669.1",
"transcript_support_level": null,
"aa_start": 6828,
"aa_end": null,
"aa_length": 8282,
"cds_start": 20484,
"cds_end": null,
"cds_length": 24849,
"cdna_start": 20681,
"cdna_end": null,
"cdna_length": 25462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 139,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.20484_20489delGTATAA",
"hgvs_p": "p.Tyr6829_Lys6830del",
"transcript": "XM_005246613.3",
"protein_id": "XP_005246670.1",
"transcript_support_level": null,
"aa_start": 6828,
"aa_end": null,
"aa_length": 8282,
"cds_start": 20484,
"cds_end": null,
"cds_length": 24849,
"cdna_start": 20681,
"cdna_end": null,
"cdna_length": 25462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246615.3",
"protein_id": "XP_005246672.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8277,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24834,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_011511225.3",
"protein_id": "XP_011509527.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8277,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24834,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004183.2",
"protein_id": "XP_016859672.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8277,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24834,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 174,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004184.2",
"protein_id": "XP_016859673.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8277,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24834,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 173,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444481.1",
"protein_id": "XP_047300437.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8246,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24741,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 173,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444482.1",
"protein_id": "XP_047300438.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8246,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24741,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 172,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444483.1",
"protein_id": "XP_047300439.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8215,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24648,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 172,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444484.1",
"protein_id": "XP_047300440.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8209,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24630,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_017004185.2",
"protein_id": "XP_016859674.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8184,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24555,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_047444485.1",
"protein_id": "XP_047300441.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8178,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24537,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 25150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 142,
"exon_rank_end": null,
"exon_count": 168,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del",
"transcript": "XM_005246616.2",
"protein_id": "XP_005246673.1",
"transcript_support_level": null,
"aa_start": 7071,
"aa_end": null,
"aa_length": 8018,
"cds_start": 21213,
"cds_end": null,
"cds_length": 24057,
"cdna_start": 21410,
"cdna_end": null,
"cdna_length": 24249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 131,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19026_19031delGTATAA",
"hgvs_p": "p.Tyr6343_Lys6344del",
"transcript": "XM_011511226.3",
"protein_id": "XP_011509528.1",
"transcript_support_level": null,
"aa_start": 6342,
"aa_end": null,
"aa_length": 7796,
"cds_start": 19026,
"cds_end": null,
"cds_length": 23391,
"cdna_start": 19223,
"cdna_end": null,
"cdna_length": 24004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 126,
"exon_rank_end": null,
"exon_count": 166,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18297_18302delGTATAA",
"hgvs_p": "p.Tyr6100_Lys6101del",
"transcript": "XM_005246617.3",
"protein_id": "XP_005246674.1",
"transcript_support_level": null,
"aa_start": 6099,
"aa_end": null,
"aa_length": 7553,
"cds_start": 18297,
"cds_end": null,
"cds_length": 22662,
"cdna_start": 18494,
"cdna_end": null,
"cdna_length": 23275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 158,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.16839_16844delGTATAA",
"hgvs_p": "p.Tyr5614_Lys5615del",
"transcript": "XM_011511227.3",
"protein_id": "XP_011509529.1",
"transcript_support_level": null,
"aa_start": 5613,
"aa_end": null,
"aa_length": 7067,
"cds_start": 16839,
"cds_end": null,
"cds_length": 21204,
"cdna_start": 17036,
"cdna_end": null,
"cdna_length": 21817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.-91_-86delGTATAA",
"hgvs_p": null,
"transcript": "ENST00000693286.1",
"protein_id": "ENSP00000509795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906081",
"gene_hgnc_id": null,
"hgvs_c": "n.-207_-202delTTATAC",
"hgvs_p": null,
"transcript": "XR_007087266.1",
"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": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"dbsnp": "rs1553683577",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.012,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397345.8",
"gene_symbol": "NEB",
"hgnc_id": 7720,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.21213_21218delGTATAA",
"hgvs_p": "p.Tyr7072_Lys7073del"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007087266.1",
"gene_symbol": "LOC124906081",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-207_-202delTTATAC",
"hgvs_p": null
}
],
"clinvar_disease": "Nemaline myopathy 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Nemaline myopathy 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}