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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: 20-3230597-CGTA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3230597&ref=CGTA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3230597,
"ref": "CGTA",
"alt": "T",
"effect": "missense_variant,conservative_inframe_deletion",
"transcript": "ENST00000642402.1",
"consequences": [
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1330_1333delTACGinsA",
"hgvs_p": "p.Tyr444_Ala445delinsThr",
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 875,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1330_1333delTACGinsA",
"hgvs_p": "p.Tyr444_Ala445delinsThr",
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 875,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1378_1381delTACGinsA",
"hgvs_p": "p.Tyr460_Ala461delinsThr",
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 891,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1459_1462delTACGinsA",
"hgvs_p": "p.Tyr487_Ala488delinsThr",
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 918,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1459_1462delTACGinsA",
"hgvs_p": "p.Tyr487_Ala488delinsThr",
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 918,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1378_1381delTACGinsA",
"hgvs_p": "p.Tyr460_Ala461delinsThr",
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 891,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1345_1348delTACGinsA",
"hgvs_p": "p.Tyr449_Ala450delinsThr",
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 880,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1273_1276delTACGinsA",
"hgvs_p": "p.Tyr425_Ala426delinsThr",
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 856,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1273_1276delTACGinsA",
"hgvs_p": "p.Tyr425_Ala426delinsThr",
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 856,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1273_1276delTACGinsA",
"hgvs_p": "p.Tyr425_Ala426delinsThr",
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 856,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1261_1264delTACGinsA",
"hgvs_p": "p.Tyr421_Ala422delinsThr",
"transcript": "ENST00000644011.1",
"protein_id": "ENSP00000496214.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 852,
"cds_start": 1261,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1216_1219delTACGinsA",
"hgvs_p": "p.Tyr406_Ala407delinsThr",
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 837,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1216_1219delTACGinsA",
"hgvs_p": "p.Tyr406_Ala407delinsThr",
"transcript": "ENST00000647296.1",
"protein_id": "ENSP00000495050.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 837,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1201_1204delTACGinsA",
"hgvs_p": "p.Tyr401_Ala402delinsThr",
"transcript": "ENST00000644692.1",
"protein_id": "ENSP00000493824.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 808,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1378_1381delTACGinsA",
"hgvs_p": "p.Tyr460_Ala461delinsThr",
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 891,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1459_1462delTACGinsA",
"hgvs_p": "p.Tyr487_Ala488delinsThr",
"transcript": "XM_017028093.2",
"protein_id": "XP_016883582.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 878,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1273_1276delTACGinsA",
"hgvs_p": "p.Tyr425_Ala426delinsThr",
"transcript": "XM_017028094.2",
"protein_id": "XP_016883583.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 856,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1273_1276delTACGinsA",
"hgvs_p": "p.Tyr425_Ala426delinsThr",
"transcript": "XM_017028096.2",
"protein_id": "XP_016883585.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 856,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1330_1333delTACGinsA",
"hgvs_p": "p.Tyr444_Ala445delinsThr",
"transcript": "XM_047440542.1",
"protein_id": "XP_047296498.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 835,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1159_1162delTACGinsA",
"hgvs_p": "p.Tyr387_Ala388delinsThr",
"transcript": "XM_047440543.1",
"protein_id": "XP_047296499.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 818,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1459_1462delTACGinsA",
"hgvs_p": "p.Tyr487_Ala488delinsThr",
"transcript": "XM_047440541.1",
"protein_id": "XP_047296497.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 755,
"cds_start": 1459,
"cds_end": null,
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"cdna_start": 1587,
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},
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],
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},
{
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],
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},
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},
{
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],
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},
{
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"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "SLC4A11",
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"feature": null
}
],
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"dbsnp": "rs869320722",
"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": 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": 9.252,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP3,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4_Supporting",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642402.1",
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"effects": [
"missense_variant",
"conservative_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1330_1333delTACGinsA",
"hgvs_p": "p.Tyr444_Ala445delinsThr"
}
],
"clinvar_disease": "Corneal dystrophy-perceptive deafness syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Corneal dystrophy-perceptive deafness syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}