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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: 11-111908939-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111908939&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111908939,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000650687.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "NM_001289808.2",
"protein_id": "NP_001276737.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "ENST00000650687.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000650687.2",
"protein_id": "ENSP00000499082.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "NM_001289808.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000526180.6",
"protein_id": "ENSP00000436051.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "NM_001289807.1",
"protein_id": "NP_001276736.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "NM_001368245.1",
"protein_id": "NP_001355174.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "NM_001885.3",
"protein_id": "NP_001876.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000227251.7",
"protein_id": "ENSP00000227251.3",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000527899.6",
"protein_id": "ENSP00000436089.2",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000527950.5",
"protein_id": "ENSP00000437149.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000531198.5",
"protein_id": "ENSP00000434247.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000533475.6",
"protein_id": "ENSP00000433560.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000533879.2",
"protein_id": "ENSP00000435931.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000616970.5",
"protein_id": "ENSP00000483554.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000651164.1",
"protein_id": "ENSP00000498735.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 175,
"cds_start": 353,
"cds_end": null,
"cds_length": 528,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys",
"transcript": "ENST00000529647.5",
"protein_id": "ENSP00000431754.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 128,
"cds_start": 353,
"cds_end": null,
"cds_length": 389,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "NM_001330379.1",
"protein_id": "NP_001317308.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "NM_001368246.1",
"protein_id": "NP_001355175.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "ENST00000525823.1",
"protein_id": "ENSP00000435411.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "ENST00000528961.6",
"protein_id": "ENSP00000435960.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "ENST00000533280.6",
"protein_id": "ENSP00000435046.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "ENST00000651650.1",
"protein_id": "ENSP00000498749.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 108,
"cds_start": 152,
"cds_end": null,
"cds_length": 327,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.152T>G",
"hgvs_p": "p.Phe51Cys",
"transcript": "ENST00000526167.5",
"protein_id": "ENSP00000434793.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 105,
"cds_start": 152,
"cds_end": null,
"cds_length": 320,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "n.144T>G",
"hgvs_p": null,
"transcript": "ENST00000524660.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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{
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],
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"dbsnp": "rs876657766",
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000650687.2",
"gene_symbol": "CRYAB",
"hgnc_id": 2389,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.353T>G",
"hgvs_p": "p.Phe118Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}