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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: 21-33622017-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33622017&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33622017,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145858.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "NM_145858.3",
"protein_id": "NP_665857.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 349,
"cds_start": 196,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000381554.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145858.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000381554.8",
"protein_id": "ENSP00000370966.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 349,
"cds_start": 196,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_145858.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381554.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.268A>C",
"hgvs_p": "p.Ile90Leu",
"transcript": "ENST00000361534.6",
"protein_id": "ENSP00000355075.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 325,
"cds_start": 268,
"cds_end": null,
"cds_length": 978,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361534.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000381540.7",
"protein_id": "ENSP00000370951.3",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 322,
"cds_start": 196,
"cds_end": null,
"cds_length": 969,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381540.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000413017.2",
"protein_id": "ENSP00000389209.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 113,
"cds_start": 196,
"cds_end": null,
"cds_length": 342,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413017.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249209",
"gene_hgnc_id": null,
"hgvs_c": "c.442-35836A>C",
"hgvs_p": null,
"transcript": "ENST00000429238.2",
"protein_id": "ENSP00000394107.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429238.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949555.1",
"protein_id": "ENSP00000619614.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 385,
"cds_start": 196,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949555.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949551.1",
"protein_id": "ENSP00000619610.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 370,
"cds_start": 196,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949551.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949553.1",
"protein_id": "ENSP00000619612.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 370,
"cds_start": 196,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949553.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949552.1",
"protein_id": "ENSP00000619611.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 359,
"cds_start": 196,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949552.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949546.1",
"protein_id": "ENSP00000619605.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 349,
"cds_start": 196,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949546.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949548.1",
"protein_id": "ENSP00000619607.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 349,
"cds_start": 196,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949548.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949549.1",
"protein_id": "ENSP00000619608.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 349,
"cds_start": 196,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949549.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000290244.9",
"protein_id": "ENSP00000290244.5",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 196,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290244.9"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.118A>C",
"hgvs_p": "p.Ile40Leu",
"transcript": "ENST00000949547.1",
"protein_id": "ENSP00000619606.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 323,
"cds_start": 118,
"cds_end": null,
"cds_length": 972,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949547.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949554.1",
"protein_id": "ENSP00000619613.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 315,
"cds_start": 196,
"cds_end": null,
"cds_length": 948,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949554.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000949550.1",
"protein_id": "ENSP00000619609.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 267,
"cds_start": 196,
"cds_end": null,
"cds_length": 804,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949550.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.25A>C",
"hgvs_p": "p.Ile9Leu",
"transcript": "ENST00000440526.5",
"protein_id": "ENSP00000412087.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 240,
"cds_start": 25,
"cds_end": null,
"cds_length": 723,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440526.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000445393.5",
"protein_id": "ENSP00000399730.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445393.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu",
"transcript": "ENST00000431177.5",
"protein_id": "ENSP00000405510.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 180,
"cds_start": 196,
"cds_end": null,
"cds_length": 544,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431177.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.40A>C",
"hgvs_p": "p.Ile14Leu",
"transcript": "ENST00000426935.5",
"protein_id": "ENSP00000387660.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 157,
"cds_start": 40,
"cds_end": null,
"cds_length": 474,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426935.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "c.40A>C",
"hgvs_p": "p.Ile14Leu",
"transcript": "ENST00000417979.5",
"protein_id": "ENSP00000402844.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 106,
"cds_start": 40,
"cds_end": null,
"cds_length": 322,
"cdna_start": 222,
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"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
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"hgvs_c": "n.196A>C",
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"transcript": "ENST00000420072.5",
"protein_id": "ENSP00000416315.1",
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"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": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420072.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "n.196A>C",
"hgvs_p": null,
"transcript": "ENST00000429827.5",
"protein_id": "ENSP00000399937.1",
"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": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429827.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"hgvs_c": "n.242A>C",
"hgvs_p": null,
"transcript": "ENST00000490714.1",
"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": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490714.1"
}
],
"gene_symbol": "CRYZL1",
"gene_hgnc_id": 2420,
"dbsnp": "rs1031862936",
"frequency_reference_population": 6.8517085e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85171e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31558477878570557,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.1932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.195,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145858.3",
"gene_symbol": "CRYZL1",
"hgnc_id": 2420,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ile66Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429238.2",
"gene_symbol": "ENSG00000249209",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.442-35836A>C",
"hgvs_p": null
}
],
"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
}