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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: 4-48500184-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48500184&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48500184,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015030.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8629A>G",
"hgvs_p": "p.Ser2877Gly",
"transcript": "NM_015030.2",
"protein_id": "NP_055845.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8629,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 9214,
"cdna_end": null,
"cdna_length": 11692,
"mane_select": "ENST00000358350.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015030.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8629A>G",
"hgvs_p": "p.Ser2877Gly",
"transcript": "ENST00000358350.9",
"protein_id": "ENSP00000351113.4",
"transcript_support_level": 5,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8629,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 9214,
"cdna_end": null,
"cdna_length": 11692,
"mane_select": "NM_015030.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358350.9"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8611A>G",
"hgvs_p": "p.Ser2871Gly",
"transcript": "ENST00000507873.8",
"protein_id": "ENSP00000422408.4",
"transcript_support_level": 1,
"aa_start": 2871,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8611,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 8611,
"cdna_end": null,
"cdna_length": 10905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507873.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "n.1084A>G",
"hgvs_p": null,
"transcript": "ENST00000512810.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512810.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8656A>G",
"hgvs_p": "p.Ser2886Gly",
"transcript": "ENST00000926452.1",
"protein_id": "ENSP00000596511.1",
"transcript_support_level": null,
"aa_start": 2886,
"aa_end": null,
"aa_length": 3022,
"cds_start": 8656,
"cds_end": null,
"cds_length": 9069,
"cdna_start": 9278,
"cdna_end": null,
"cdna_length": 11748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926452.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.4276A>G",
"hgvs_p": "p.Ser1426Gly",
"transcript": "ENST00000641795.1",
"protein_id": "ENSP00000493144.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4276,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641795.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8950A>G",
"hgvs_p": "p.Ser2984Gly",
"transcript": "XM_024453988.2",
"protein_id": "XP_024309756.1",
"transcript_support_level": null,
"aa_start": 2984,
"aa_end": null,
"aa_length": 3120,
"cds_start": 8950,
"cds_end": null,
"cds_length": 9363,
"cdna_start": 9035,
"cdna_end": null,
"cdna_length": 11513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453988.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8947A>G",
"hgvs_p": "p.Ser2983Gly",
"transcript": "XM_011513680.4",
"protein_id": "XP_011511982.2",
"transcript_support_level": null,
"aa_start": 2983,
"aa_end": null,
"aa_length": 3119,
"cds_start": 8947,
"cds_end": null,
"cds_length": 9360,
"cdna_start": 9032,
"cdna_end": null,
"cdna_length": 11510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513680.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8932A>G",
"hgvs_p": "p.Ser2978Gly",
"transcript": "XM_011513681.4",
"protein_id": "XP_011511983.2",
"transcript_support_level": null,
"aa_start": 2978,
"aa_end": null,
"aa_length": 3114,
"cds_start": 8932,
"cds_end": null,
"cds_length": 9345,
"cdna_start": 9017,
"cdna_end": null,
"cdna_length": 11495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513681.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8929A>G",
"hgvs_p": "p.Ser2977Gly",
"transcript": "XM_047450095.1",
"protein_id": "XP_047306051.1",
"transcript_support_level": null,
"aa_start": 2977,
"aa_end": null,
"aa_length": 3113,
"cds_start": 8929,
"cds_end": null,
"cds_length": 9342,
"cdna_start": 9014,
"cdna_end": null,
"cdna_length": 11492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450095.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8905A>G",
"hgvs_p": "p.Ser2969Gly",
"transcript": "XM_024453989.2",
"protein_id": "XP_024309757.1",
"transcript_support_level": null,
"aa_start": 2969,
"aa_end": null,
"aa_length": 3105,
"cds_start": 8905,
"cds_end": null,
"cds_length": 9318,
"cdna_start": 8990,
"cdna_end": null,
"cdna_length": 11468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453989.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8902A>G",
"hgvs_p": "p.Ser2968Gly",
"transcript": "XM_047450097.1",
"protein_id": "XP_047306053.1",
"transcript_support_level": null,
"aa_start": 2968,
"aa_end": null,
"aa_length": 3104,
"cds_start": 8902,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 8987,
"cdna_end": null,
"cdna_length": 11465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450097.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8887A>G",
"hgvs_p": "p.Ser2963Gly",
"transcript": "XM_011513682.4",
"protein_id": "XP_011511984.2",
"transcript_support_level": null,
"aa_start": 2963,
"aa_end": null,
"aa_length": 3099,
"cds_start": 8887,
"cds_end": null,
"cds_length": 9300,
"cdna_start": 8972,
"cdna_end": null,
"cdna_length": 11450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513682.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8884A>G",
"hgvs_p": "p.Ser2962Gly",
"transcript": "XM_047450098.1",
"protein_id": "XP_047306054.1",
"transcript_support_level": null,
"aa_start": 2962,
"aa_end": null,
"aa_length": 3098,
"cds_start": 8884,
"cds_end": null,
"cds_length": 9297,
"cdna_start": 8969,
"cdna_end": null,
"cdna_length": 11447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450098.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8674A>G",
"hgvs_p": "p.Ser2892Gly",
"transcript": "XM_005248090.6",
"protein_id": "XP_005248147.1",
"transcript_support_level": null,
"aa_start": 2892,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8674,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 9259,
"cdna_end": null,
"cdna_length": 11737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248090.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8674A>G",
"hgvs_p": "p.Ser2892Gly",
"transcript": "XM_011513683.4",
"protein_id": "XP_011511985.1",
"transcript_support_level": null,
"aa_start": 2892,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8674,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 9136,
"cdna_end": null,
"cdna_length": 11614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513683.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8674A>G",
"hgvs_p": "p.Ser2892Gly",
"transcript": "XM_024453991.2",
"protein_id": "XP_024309759.1",
"transcript_support_level": null,
"aa_start": 2892,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8674,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 9079,
"cdna_end": null,
"cdna_length": 11557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453991.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8674A>G",
"hgvs_p": "p.Ser2892Gly",
"transcript": "XM_024453992.2",
"protein_id": "XP_024309760.1",
"transcript_support_level": null,
"aa_start": 2892,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8674,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 16704,
"cdna_end": null,
"cdna_length": 19182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453992.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8674A>G",
"hgvs_p": "p.Ser2892Gly",
"transcript": "XM_047450099.1",
"protein_id": "XP_047306055.1",
"transcript_support_level": null,
"aa_start": 2892,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8674,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 22230,
"cdna_end": null,
"cdna_length": 24708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450099.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8629A>G",
"hgvs_p": "p.Ser2877Gly",
"transcript": "XM_024453993.2",
"protein_id": "XP_024309761.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8629,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 9091,
"cdna_end": null,
"cdna_length": 11569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453993.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5728A>G",
"hgvs_p": "p.Ser1910Gly",
"transcript": "XM_047450100.1",
"protein_id": "XP_047306056.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5728,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5748,
"cdna_end": null,
"cdna_length": 8226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450100.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5722A>G",
"hgvs_p": "p.Ser1908Gly",
"transcript": "XM_005248093.6",
"protein_id": "XP_005248150.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2044,
"cds_start": 5722,
"cds_end": null,
"cds_length": 6135,
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},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"protein_id": "XP_011511986.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "FRYL",
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"transcript": "XM_047450101.1",
"protein_id": "XP_047306057.1",
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"feature": "XM_047450101.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FRYL",
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"transcript": "ENST00000503238.6",
"protein_id": "ENSP00000426064.2",
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"aa_length": null,
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503238.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "FRYL",
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"biotype": "retained_intron",
"feature": "ENST00000503339.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 61,
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"exon_count": 62,
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"gene_symbol": "FRYL",
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"hgvs_c": "n.*4660A>G",
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"transcript": "ENST00000503238.6",
"protein_id": "ENSP00000426064.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 10448,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503238.6"
}
],
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"dbsnp": "rs62619178",
"frequency_reference_population": 0.000729422,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1164,
"gnomad_exomes_af": 0.000757229,
"gnomad_genomes_af": 0.000465989,
"gnomad_exomes_ac": 1093,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012434720993041992,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0526,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.856,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015030.2",
"gene_symbol": "FRYL",
"hgnc_id": 29127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8629A>G",
"hgvs_p": "p.Ser2877Gly"
}
],
"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
}