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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: 4-48510103-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48510103&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48510103,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015030.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8350G>A",
"hgvs_p": "p.Glu2784Lys",
"transcript": "NM_015030.2",
"protein_id": "NP_055845.1",
"transcript_support_level": null,
"aa_start": 2784,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8350,
"cds_end": null,
"cds_length": 9042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358350.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015030.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8350G>A",
"hgvs_p": "p.Glu2784Lys",
"transcript": "ENST00000358350.9",
"protein_id": "ENSP00000351113.4",
"transcript_support_level": 5,
"aa_start": 2784,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8350,
"cds_end": null,
"cds_length": 9042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015030.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358350.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8350G>A",
"hgvs_p": "p.Glu2784Lys",
"transcript": "ENST00000507873.8",
"protein_id": "ENSP00000422408.4",
"transcript_support_level": 1,
"aa_start": 2784,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8350,
"cds_end": null,
"cds_length": 9024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "n.823G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512810.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "ENST00000926452.1",
"protein_id": "ENSP00000596511.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3022,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926452.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.3997G>A",
"hgvs_p": "p.Glu1333Lys",
"transcript": "ENST00000641795.1",
"protein_id": "ENSP00000493144.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1562,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641795.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8671G>A",
"hgvs_p": "p.Glu2891Lys",
"transcript": "XM_024453988.2",
"protein_id": "XP_024309756.1",
"transcript_support_level": null,
"aa_start": 2891,
"aa_end": null,
"aa_length": 3120,
"cds_start": 8671,
"cds_end": null,
"cds_length": 9363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453988.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8668G>A",
"hgvs_p": "p.Glu2890Lys",
"transcript": "XM_011513680.4",
"protein_id": "XP_011511982.2",
"transcript_support_level": null,
"aa_start": 2890,
"aa_end": null,
"aa_length": 3119,
"cds_start": 8668,
"cds_end": null,
"cds_length": 9360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513680.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8671G>A",
"hgvs_p": "p.Glu2891Lys",
"transcript": "XM_011513681.4",
"protein_id": "XP_011511983.2",
"transcript_support_level": null,
"aa_start": 2891,
"aa_end": null,
"aa_length": 3114,
"cds_start": 8671,
"cds_end": null,
"cds_length": 9345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513681.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8668G>A",
"hgvs_p": "p.Glu2890Lys",
"transcript": "XM_047450095.1",
"protein_id": "XP_047306051.1",
"transcript_support_level": null,
"aa_start": 2890,
"aa_end": null,
"aa_length": 3113,
"cds_start": 8668,
"cds_end": null,
"cds_length": 9342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450095.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8626G>A",
"hgvs_p": "p.Glu2876Lys",
"transcript": "XM_024453989.2",
"protein_id": "XP_024309757.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3105,
"cds_start": 8626,
"cds_end": null,
"cds_length": 9318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453989.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8623G>A",
"hgvs_p": "p.Glu2875Lys",
"transcript": "XM_047450097.1",
"protein_id": "XP_047306053.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 3104,
"cds_start": 8623,
"cds_end": null,
"cds_length": 9315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450097.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8626G>A",
"hgvs_p": "p.Glu2876Lys",
"transcript": "XM_011513682.4",
"protein_id": "XP_011511984.2",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3099,
"cds_start": 8626,
"cds_end": null,
"cds_length": 9300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513682.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8623G>A",
"hgvs_p": "p.Glu2875Lys",
"transcript": "XM_047450098.1",
"protein_id": "XP_047306054.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 3098,
"cds_start": 8623,
"cds_end": null,
"cds_length": 9297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "XM_005248090.6",
"protein_id": "XP_005248147.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248090.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "XM_011513683.4",
"protein_id": "XP_011511985.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513683.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "XM_024453991.2",
"protein_id": "XP_024309759.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453991.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "XM_024453992.2",
"protein_id": "XP_024309760.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453992.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Glu2799Lys",
"transcript": "XM_047450099.1",
"protein_id": "XP_047306055.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450099.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8350G>A",
"hgvs_p": "p.Glu2784Lys",
"transcript": "XM_024453993.2",
"protein_id": "XP_024309761.1",
"transcript_support_level": null,
"aa_start": 2784,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8350,
"cds_end": null,
"cds_length": 9042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453993.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5449G>A",
"hgvs_p": "p.Glu1817Lys",
"transcript": "XM_047450100.1",
"protein_id": "XP_047306056.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5449,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450100.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5443G>A",
"hgvs_p": "p.Glu1815Lys",
"transcript": "XM_005248093.6",
"protein_id": "XP_005248150.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2044,
"cds_start": 5443,
"cds_end": null,
"cds_length": 6135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248093.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5443G>A",
"hgvs_p": "p.Glu1815Lys",
"transcript": "XM_011513684.4",
"protein_id": "XP_011511986.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2044,
"cds_start": 5443,
"cds_end": null,
"cds_length": 6135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513684.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5443G>A",
"hgvs_p": "p.Glu1815Lys",
"transcript": "XM_047450101.1",
"protein_id": "XP_047306057.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2038,
"cds_start": 5443,
"cds_end": null,
"cds_length": 6117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "n.*4381G>A",
"hgvs_p": null,
"transcript": "ENST00000503238.6",
"protein_id": "ENSP00000426064.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000503238.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "n.*4381G>A",
"hgvs_p": null,
"transcript": "ENST00000503238.6",
"protein_id": "ENSP00000426064.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000503238.6"
}
],
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7888542413711548,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9312,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.488,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015030.2",
"gene_symbol": "FRYL",
"hgnc_id": 29127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8350G>A",
"hgvs_p": "p.Glu2784Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}