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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: 16-30499341-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30499341&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30499341,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002209.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "NM_002209.3",
"protein_id": "NP_002200.2",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1997,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": "ENST00000356798.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002209.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "ENST00000356798.11",
"protein_id": "ENSP00000349252.5",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1997,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": "NM_002209.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356798.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Arg583Pro",
"transcript": "ENST00000358164.9",
"protein_id": "ENSP00000350886.5",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358164.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2003G>C",
"hgvs_p": "p.Arg668Pro",
"transcript": "ENST00000955586.1",
"protein_id": "ENSP00000625645.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2003,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955586.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "ENST00000875723.1",
"protein_id": "ENSP00000545782.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1169,
"cds_start": 1997,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 5186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875723.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "ENST00000875722.1",
"protein_id": "ENSP00000545781.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1997,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875722.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1859G>C",
"hgvs_p": "p.Arg620Pro",
"transcript": "ENST00000955585.1",
"protein_id": "ENSP00000625644.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1859,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955585.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Arg583Pro",
"transcript": "NM_001114380.2",
"protein_id": "NP_001107852.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114380.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "ENST00000433423.2",
"protein_id": "ENSP00000409377.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 404,
"cds_start": 185,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433423.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "XM_005255313.1",
"protein_id": "XP_005255370.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1169,
"cds_start": 1997,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255313.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Arg583Pro",
"transcript": "XM_006721044.2",
"protein_id": "XP_006721107.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1748,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721044.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"transcript": "XM_047434072.1",
"protein_id": "XP_047290028.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 842,
"cds_start": 1013,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434072.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"transcript": "XM_047434073.1",
"protein_id": "XP_047290029.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 841,
"cds_start": 1013,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.356G>C",
"hgvs_p": null,
"transcript": "ENST00000568987.1",
"protein_id": null,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*3567G>C",
"hgvs_p": null,
"transcript": "ENST00000676652.1",
"protein_id": "ENSP00000503942.1",
"transcript_support_level": null,
"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": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1063G>C",
"hgvs_p": null,
"transcript": "ENST00000677830.1",
"protein_id": "ENSP00000503623.1",
"transcript_support_level": null,
"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": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1741G>C",
"hgvs_p": null,
"transcript": "ENST00000678203.1",
"protein_id": "ENSP00000504379.1",
"transcript_support_level": null,
"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": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*3567G>C",
"hgvs_p": null,
"transcript": "ENST00000676652.1",
"protein_id": "ENSP00000503942.1",
"transcript_support_level": null,
"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": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1063G>C",
"hgvs_p": null,
"transcript": "ENST00000677830.1",
"protein_id": "ENSP00000503623.1",
"transcript_support_level": null,
"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": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1741G>C",
"hgvs_p": null,
"transcript": "ENST00000678203.1",
"protein_id": "ENSP00000504379.1",
"transcript_support_level": null,
"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": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.62-32G>C",
"hgvs_p": null,
"transcript": "ENST00000563615.5",
"protein_id": "ENSP00000458739.1",
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563615.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGAL-AS1",
"gene_hgnc_id": 56737,
"hgvs_c": "n.191+23C>G",
"hgvs_p": null,
"transcript": "ENST00000563751.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563751.1"
},
{
"aa_ref": null,
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
"score": -2,
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"BP4_Strong"
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}