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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: 1-203217736-TACTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203217736&ref=TACTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 203217736,
"ref": "TACTC",
"alt": "T",
"effect": "frameshift_variant,splice_donor_variant,splice_region_variant,intron_variant",
"transcript": "NM_003465.3",
"consequences": [
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1155_1156+2delGAGT",
"hgvs_p": "p.Leu387fs",
"transcript": "NM_003465.3",
"protein_id": "NP_003456.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 466,
"cds_start": 1155,
"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": "LS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1155_1156+2delGAGT",
"hgvs_p": "p.Leu387fs",
"transcript": "ENST00000367229.6",
"protein_id": "ENSP00000356198.1",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 466,
"cds_start": 1155,
"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": [
"splice_region_variant",
"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.*226_*227+2delGAGT",
"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": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"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.1155_1156+2delGAGT",
"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": [
"splice_donor_variant",
"3_prime_UTR_variant",
"intron_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.*226_*227+2delGAGT",
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_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": "c.1263_1264+2delGAGT",
"hgvs_p": "p.Leu423fs",
"transcript": "ENST00000956207.1",
"protein_id": "ENSP00000626266.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 502,
"cds_start": 1263,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1176_1177+2delGAGT",
"hgvs_p": "p.Leu394fs",
"transcript": "ENST00000956204.1",
"protein_id": "ENSP00000626263.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 473,
"cds_start": 1176,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1149_1150+2delGAGT",
"hgvs_p": "p.Leu385fs",
"transcript": "ENST00000903374.1",
"protein_id": "ENSP00000573433.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 464,
"cds_start": 1149,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1155_1156+2delGAGT",
"hgvs_p": "p.Ser386fs",
"transcript": "ENST00000903373.1",
"protein_id": "ENSP00000573432.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 459,
"cds_start": 1155,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1125_1126+2delGAGT",
"hgvs_p": "p.Leu377fs",
"transcript": "ENST00000956201.1",
"protein_id": "ENSP00000626260.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 456,
"cds_start": 1125,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1098_1099+2delGAGT",
"hgvs_p": "p.Leu368fs",
"transcript": "NM_001256125.2",
"protein_id": "NP_001243054.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 447,
"cds_start": 1098,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1098_1099+2delGAGT",
"hgvs_p": "p.Leu368fs",
"transcript": "ENST00000255427.7",
"protein_id": "ENSP00000255427.3",
"transcript_support_level": 2,
"aa_start": 366,
"aa_end": null,
"aa_length": 447,
"cds_start": 1098,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1089_1090+2delGAGT",
"hgvs_p": "p.Leu365fs",
"transcript": "ENST00000956205.1",
"protein_id": "ENSP00000626264.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 444,
"cds_start": 1089,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1098_1099+2delGAGT",
"hgvs_p": "p.Ser367fs",
"transcript": "ENST00000956206.1",
"protein_id": "ENSP00000626265.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 440,
"cds_start": 1098,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1068_1069+2delGAGT",
"hgvs_p": "p.Leu358fs",
"transcript": "ENST00000956203.1",
"protein_id": "ENSP00000626262.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 437,
"cds_start": 1068,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1041_1042+2delGAGT",
"hgvs_p": "p.Leu349fs",
"transcript": "ENST00000956208.1",
"protein_id": "ENSP00000626267.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 428,
"cds_start": 1041,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.969_970+2delGAGT",
"hgvs_p": "p.Leu325fs",
"transcript": "ENST00000956202.1",
"protein_id": "ENSP00000626261.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 404,
"cds_start": 969,
"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": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"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.1200_1201+2delGAGT",
"hgvs_p": "p.Leu402fs",
"transcript": "XM_047442899.1",
"protein_id": "XP_047298855.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 481,
"cds_start": 1200,
"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": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"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.282_283+2delGAGT",
"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": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"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.5387_5388+2delGAGT",
"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": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"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.1349_1350+2delGAGT",
"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": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"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.1192_1193+2delGAGT",
"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": "rs143439055",
"frequency_reference_population": 0.004495337,
"hom_count_reference_population": 264,
"allele_count_reference_population": 7254,
"gnomad_exomes_af": 0.00249588,
"gnomad_genomes_af": 0.023714,
"gnomad_exomes_ac": 3648,
"gnomad_genomes_ac": 3606,
"gnomad_exomes_homalt": 135,
"gnomad_genomes_homalt": 129,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003465.3",
"gene_symbol": "CHIT1",
"hgnc_id": 1936,
"effects": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1155_1156+2delGAGT",
"hgvs_p": "p.Leu387fs"
}
],
"clinvar_disease": "Chitotriosidase deficiency,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Chitotriosidase deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}