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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: 11-111908967-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111908967&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111908967,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000650687.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "NM_001289808.2",
"protein_id": "NP_001276737.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "ENST00000650687.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000650687.2",
"protein_id": "ENSP00000499082.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "NM_001289808.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000526180.6",
"protein_id": "ENSP00000436051.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "NM_001289807.1",
"protein_id": "NP_001276736.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "NM_001368245.1",
"protein_id": "NP_001355174.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "NM_001885.3",
"protein_id": "NP_001876.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000227251.7",
"protein_id": "ENSP00000227251.3",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000527899.6",
"protein_id": "ENSP00000436089.2",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000527950.5",
"protein_id": "ENSP00000437149.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000531198.5",
"protein_id": "ENSP00000434247.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000533475.6",
"protein_id": "ENSP00000433560.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000533879.2",
"protein_id": "ENSP00000435931.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000616970.5",
"protein_id": "ENSP00000483554.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000651164.1",
"protein_id": "ENSP00000498735.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 175,
"cds_start": 325,
"cds_end": null,
"cds_length": 528,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.325G>C",
"hgvs_p": "p.Asp109His",
"transcript": "ENST00000529647.5",
"protein_id": "ENSP00000431754.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 128,
"cds_start": 325,
"cds_end": null,
"cds_length": 389,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "NM_001330379.1",
"protein_id": "NP_001317308.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "NM_001368246.1",
"protein_id": "NP_001355175.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000525823.1",
"protein_id": "ENSP00000435411.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000528961.6",
"protein_id": "ENSP00000435960.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000533280.6",
"protein_id": "ENSP00000435046.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000651650.1",
"protein_id": "ENSP00000498749.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 108,
"cds_start": 124,
"cds_end": null,
"cds_length": 327,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000526167.5",
"protein_id": "ENSP00000434793.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 105,
"cds_start": 124,
"cds_end": null,
"cds_length": 320,
"cdna_start": 321,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CRYAB",
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"hgvs_c": "n.116G>C",
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"transcript": "ENST00000524660.1",
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"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 464,
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"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,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CRYAB",
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"hgvs_c": "n.3070G>C",
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"transcript": "ENST00000652223.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3414,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CRYAB",
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"hgvs_c": "n.1643G>C",
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"transcript": "ENST00000652606.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1960,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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.*1216G>C",
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"transcript": "ENST00000533971.2",
"protein_id": "ENSP00000434269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"dbsnp": "rs387907339",
"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": 0.9369648694992065,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9819999933242798,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.943,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.308,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.33,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999944827610395,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000650687.2",
"gene_symbol": "CRYAB",
"hgnc_id": 2389,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.325G>C",
"hgvs_p": "p.Asp109His"
}
],
"clinvar_disease": "Myofibrillar myopathy 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myofibrillar myopathy 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}