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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: 1-203217822-C-CAGACCATGGCCCCGCCCAGTCCCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203217822&ref=C&alt=CAGACCATGGCCCCGCCCAGTCCCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 203217822,
"ref": "C",
"alt": "CAGACCATGGCCCCGCCCAGTCCCT",
"effect": "stop_gained,conservative_inframe_insertion",
"transcript": "NM_003465.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "NM_003465.3",
"protein_id": "NP_003456.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 466,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367229.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003465.3"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000367229.6",
"protein_id": "ENSP00000356198.1",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 466,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003465.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367229.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000491855.5",
"protein_id": "ENSP00000423778.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.*120_*143dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000503786.1",
"protein_id": "ENSP00000421617.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.*120_*143dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000503786.1",
"protein_id": "ENSP00000421617.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503786.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1157_1180dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val393_Trp394insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956207.1",
"protein_id": "ENSP00000626266.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 502,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956207.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1070_1093dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val364_Trp365insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956204.1",
"protein_id": "ENSP00000626263.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 473,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956204.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1043_1066dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val355_Trp356insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000903374.1",
"protein_id": "ENSP00000573433.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903374.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000903373.1",
"protein_id": "ENSP00000573432.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 459,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903373.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1019_1042dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val347_Trp348insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956201.1",
"protein_id": "ENSP00000626260.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 456,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956201.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.992_1015dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val338_Trp339insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "NM_001256125.2",
"protein_id": "NP_001243054.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 447,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256125.2"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.992_1015dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val338_Trp339insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000255427.7",
"protein_id": "ENSP00000255427.3",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 447,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255427.7"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.983_1006dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val335_Trp336insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956205.1",
"protein_id": "ENSP00000626264.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 444,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956205.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.992_1015dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val338_Trp339insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956206.1",
"protein_id": "ENSP00000626265.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 440,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956206.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.935_958dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val319_Trp320insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956208.1",
"protein_id": "ENSP00000626267.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 428,
"cds_start": 958,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956208.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.863_886dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val295_Trp296insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "ENST00000956202.1",
"protein_id": "ENSP00000626261.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 404,
"cds_start": 886,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956202.1"
},
{
"aa_ref": "W",
"aa_alt": "*GLGGAMVW",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1094_1117dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val372_Trp373insTerGlyLeuGlyGlyAlaMetVal",
"transcript": "XM_047442899.1",
"protein_id": "XP_047298855.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 481,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442899.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "c.1030-68_1030-45dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000956203.1",
"protein_id": "ENSP00000626262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.176_199dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000479483.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000479483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.5281_5304dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "ENST00000484834.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484834.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.1243_1266dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "NR_045784.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045784.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"hgvs_c": "n.1086_1109dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": null,
"transcript": "NR_045785.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045785.2"
}
],
"gene_symbol": "CHIT1",
"gene_hgnc_id": 1936,
"dbsnp": "rs3831317",
"frequency_reference_population": 0.21644795,
"hom_count_reference_population": 43887,
"allele_count_reference_population": 348934,
"gnomad_exomes_af": 0.219998,
"gnomad_genomes_af": 0.182349,
"gnomad_exomes_ac": 321217,
"gnomad_genomes_ac": 27717,
"gnomad_exomes_homalt": 40441,
"gnomad_genomes_homalt": 3446,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.529,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 16,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003465.3",
"gene_symbol": "CHIT1",
"hgnc_id": 1936,
"effects": [
"stop_gained",
"conservative_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT",
"hgvs_p": "p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal"
}
],
"clinvar_disease": "Chitotriosidase deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3 O:2",
"phenotype_combined": "Chitotriosidase deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}