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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: X-65514851-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65514851&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65514851,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031206.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.Arg684Trp",
"transcript": "NM_031206.7",
"protein_id": "NP_112483.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 734,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374811.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031206.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.Arg684Trp",
"transcript": "ENST00000374811.8",
"protein_id": "ENSP00000363944.3",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 734,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031206.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374811.8"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Trp",
"transcript": "ENST00000374807.9",
"protein_id": "ENSP00000363940.5",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 717,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374807.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Arg698Trp",
"transcript": "ENST00000867035.1",
"protein_id": "ENSP00000537094.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 748,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867035.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Trp",
"transcript": "NM_001375328.1",
"protein_id": "NP_001362257.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375328.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Trp",
"transcript": "ENST00000867034.1",
"protein_id": "ENSP00000537093.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867034.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2029C>T",
"hgvs_p": "p.Arg677Trp",
"transcript": "ENST00000867036.1",
"protein_id": "ENSP00000537095.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867036.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "ENST00000911726.1",
"protein_id": "ENSP00000581785.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 726,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911726.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Arg671Trp",
"transcript": "ENST00000971942.1",
"protein_id": "ENSP00000642001.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 721,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971942.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Trp",
"transcript": "NM_001170649.2",
"protein_id": "NP_001164120.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 717,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170649.2"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "NM_001375333.1",
"protein_id": "NP_001362262.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 716,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375333.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "ENST00000867031.1",
"protein_id": "ENSP00000537090.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 716,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867031.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1957C>T",
"hgvs_p": "p.Arg653Trp",
"transcript": "ENST00000971940.1",
"protein_id": "ENSP00000641999.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 703,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971940.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Arg642Trp",
"transcript": "ENST00000867037.1",
"protein_id": "ENSP00000537096.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 692,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867037.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000971938.1",
"protein_id": "ENSP00000641997.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 686,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971938.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Arg629Trp",
"transcript": "ENST00000911730.1",
"protein_id": "ENSP00000581789.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911730.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625Trp",
"transcript": "NM_001170650.2",
"protein_id": "NP_001164121.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 675,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170650.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625Trp",
"transcript": "ENST00000374804.9",
"protein_id": "ENSP00000363937.5",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 675,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374804.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625Trp",
"transcript": "ENST00000911728.1",
"protein_id": "ENSP00000581787.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 675,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911728.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624Trp",
"transcript": "ENST00000867032.1",
"protein_id": "ENSP00000537091.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 674,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867032.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Trp",
"transcript": "ENST00000867033.1",
"protein_id": "ENSP00000537092.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 665,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867033.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Trp",
"transcript": "ENST00000911727.1",
"protein_id": "ENSP00000581786.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 665,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": null,
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"hgvs_c": "n.2238C>T",
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"transcript": "NR_164681.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164681.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LAS1L",
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"hgvs_c": "n.2187C>T",
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"transcript": "NR_199823.1",
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_199823.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
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"hgvs_c": "n.2012C>T",
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"transcript": "NR_199824.1",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_199824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "LAS1L",
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"hgvs_c": "n.*3922C>T",
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"transcript": "ENST00000484069.1",
"protein_id": "ENSP00000473471.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484069.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "LAS1L",
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"hgvs_c": "n.*1903C>T",
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"transcript": "ENST00000678956.1",
"protein_id": "ENSP00000504653.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678956.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.*851+8709C>T",
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"transcript": "ENST00000677056.1",
"protein_id": "ENSP00000504224.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677056.1"
}
],
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"dbsnp": "rs762602796",
"frequency_reference_population": 0.0000018436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000018436,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1581490933895111,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.1833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.39,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031206.7",
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.Arg684Trp"
}
],
"clinvar_disease": "Wilson-Turner syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Wilson-Turner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}