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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: 15-41504540-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41504540&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41504540,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002344.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "NM_002344.6",
"protein_id": "NP_002335.2",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 864,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263800.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002344.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "ENST00000263800.11",
"protein_id": "ENSP00000263800.6",
"transcript_support_level": 1,
"aa_start": 741,
"aa_end": null,
"aa_length": 864,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002344.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263800.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680Trp",
"transcript": "ENST00000355166.9",
"protein_id": "ENSP00000347293.5",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 803,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355166.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Trp",
"transcript": "ENST00000561619.5",
"protein_id": "ENSP00000458111.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 562,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561619.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Trp",
"transcript": "ENST00000953759.1",
"protein_id": "ENSP00000623818.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 880,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953759.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Arg737Trp",
"transcript": "ENST00000953763.1",
"protein_id": "ENSP00000623822.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 860,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953763.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"transcript": "ENST00000953760.1",
"protein_id": "ENSP00000623819.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 832,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953760.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2086C>T",
"hgvs_p": "p.Arg696Trp",
"transcript": "ENST00000897467.1",
"protein_id": "ENSP00000567526.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 819,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897467.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680Trp",
"transcript": "NM_206961.4",
"protein_id": "NP_996844.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 803,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206961.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Arg672Trp",
"transcript": "ENST00000953761.1",
"protein_id": "ENSP00000623820.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 795,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953761.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1936C>T",
"hgvs_p": "p.Arg646Trp",
"transcript": "ENST00000953764.1",
"protein_id": "ENSP00000623823.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 769,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953764.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1918C>T",
"hgvs_p": "p.Arg640Trp",
"transcript": "ENST00000953762.1",
"protein_id": "ENSP00000623821.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 763,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953762.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "NM_001135685.2",
"protein_id": "NP_001129157.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 734,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135685.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "ENST00000453182.2",
"protein_id": "ENSP00000392196.2",
"transcript_support_level": 2,
"aa_start": 611,
"aa_end": null,
"aa_length": 734,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453182.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Trp",
"transcript": "ENST00000897466.1",
"protein_id": "ENSP00000567525.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 702,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897466.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Trp",
"transcript": "ENST00000953765.1",
"protein_id": "ENSP00000623824.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 567,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953765.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423Trp",
"transcript": "ENST00000897468.1",
"protein_id": "ENSP00000567527.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 546,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897468.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "XM_011521557.3",
"protein_id": "XP_011519859.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 824,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521557.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2086C>T",
"hgvs_p": "p.Arg696Trp",
"transcript": "XM_047432499.1",
"protein_id": "XP_047288455.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 819,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432499.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2053C>T",
"hgvs_p": "p.Arg685Trp",
"transcript": "XM_047432500.1",
"protein_id": "XP_047288456.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 808,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432500.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1957C>T",
"hgvs_p": "p.Arg653Trp",
"transcript": "XM_047432501.1",
"protein_id": "XP_047288457.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 776,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432501.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1846C>T",
"hgvs_p": "p.Arg616Trp",
"transcript": "XM_047432502.1",
"protein_id": "XP_047288458.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 739,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LTK",
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"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LTK",
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"hgvs_c": "c.1054C>T",
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"transcript": "XM_047432503.1",
"protein_id": "XP_047288459.1",
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"biotype": "protein_coding",
"feature": "XM_047432503.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LTK",
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"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Arg336Trp",
"transcript": "XM_047432505.1",
"protein_id": "XP_047288461.1",
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"aa_start": 336,
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"aa_length": 459,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1380,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432505.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "LTK",
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"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Trp",
"transcript": "XM_047432506.1",
"protein_id": "XP_047288462.1",
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"aa_start": 282,
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"aa_length": 405,
"cds_start": 844,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432506.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "n.2643C>T",
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"transcript": "ENST00000563518.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563518.5"
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],
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"dbsnp": "rs370375739",
"frequency_reference_population": 0.00008923625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 144,
"gnomad_exomes_af": 0.0000848438,
"gnomad_genomes_af": 0.00013142,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4503943920135498,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.099,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002344.6",
"gene_symbol": "LTK",
"hgnc_id": 6721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}