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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: 17-18233783-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18233783&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18233783,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004140.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_004140.4",
"protein_id": "NP_004131.4",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1064,
"cds_start": 398,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316843.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004140.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000316843.9",
"protein_id": "ENSP00000321537.4",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 1064,
"cds_start": 398,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004140.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316843.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855607.1",
"protein_id": "ENSP00000525666.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1084,
"cds_start": 398,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855607.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855606.1",
"protein_id": "ENSP00000525665.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1063,
"cds_start": 398,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855606.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855605.1",
"protein_id": "ENSP00000525664.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1062,
"cds_start": 398,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855605.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855608.1",
"protein_id": "ENSP00000525667.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1062,
"cds_start": 398,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855608.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855614.1",
"protein_id": "ENSP00000525673.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1061,
"cds_start": 398,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855614.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855609.1",
"protein_id": "ENSP00000525668.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1060,
"cds_start": 398,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855609.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855611.1",
"protein_id": "ENSP00000525670.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1057,
"cds_start": 398,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855611.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855610.1",
"protein_id": "ENSP00000525669.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1055,
"cds_start": 398,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855610.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855612.1",
"protein_id": "ENSP00000525671.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1047,
"cds_start": 398,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855612.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000855613.1",
"protein_id": "ENSP00000525672.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1045,
"cds_start": 398,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855613.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523849.3",
"protein_id": "XP_011522151.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1105,
"cds_start": 398,
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"cds_length": 3318,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011523849.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523850.3",
"protein_id": "XP_011522152.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011523850.3"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523851.3",
"protein_id": "XP_011522153.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1103,
"cds_start": 398,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523851.3"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "LLGL1",
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"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523852.3",
"protein_id": "XP_011522154.1",
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"aa_end": null,
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"cds_start": 398,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011523852.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523853.3",
"protein_id": "XP_011522155.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1085,
"cds_start": 398,
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"cds_length": 3258,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011523853.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_011523854.3",
"protein_id": "XP_011522156.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": null,
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"feature": "XM_011523854.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "LLGL1",
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"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_047436002.1",
"protein_id": "XP_047291958.1",
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"biotype": "protein_coding",
"feature": "XM_047436002.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_047436003.1",
"protein_id": "XP_047291959.1",
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"biotype": "protein_coding",
"feature": "XM_047436003.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_047436004.1",
"protein_id": "XP_047291960.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1083,
"cds_start": 398,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436004.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "XM_047436005.1",
"protein_id": "XP_047291961.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1082,
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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": "protein_coding",
"feature": "XM_047436005.1"
},
{
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{
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],
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},
{
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"strand": true,
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],
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"feature": "XM_047436006.1"
},
{
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"strand": true,
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"missense_variant"
],
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"feature": "XM_047436007.1"
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{
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"missense_variant"
],
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"gene_symbol": "LLGL1",
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"feature": "XM_047436008.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "LLGL1",
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"hgvs_c": "n.-119C>T",
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"transcript": "ENST00000479155.1",
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"biotype": "retained_intron",
"feature": "ENST00000479155.1"
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],
"gene_symbol": "LLGL1",
"gene_hgnc_id": 6628,
"dbsnp": "rs149627877",
"frequency_reference_population": 0.00014073715,
"hom_count_reference_population": 0,
"allele_count_reference_population": 227,
"gnomad_exomes_af": 0.000147192,
"gnomad_genomes_af": 0.0000788115,
"gnomad_exomes_ac": 215,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07684695720672607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0756,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.36,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004140.4",
"gene_symbol": "LLGL1",
"hgnc_id": 6628,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu"
}
],
"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
}