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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: 9-95447221-ACGGGCCCCGCGAGGGCCCCAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95447221&ref=ACGGGCCCCGCGAGGGCCCCAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95447221,
"ref": "ACGGGCCCCGCGAGGGCCCCAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000331920.11",
"consequences": [
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.4014_4034delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1339_Arg1345del",
"transcript": "NM_000264.5",
"protein_id": "NP_000255.2",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4939,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "ENST00000331920.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.4014_4034delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1339_Arg1345del",
"transcript": "ENST00000331920.11",
"protein_id": "ENSP00000332353.6",
"transcript_support_level": 5,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4939,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "NM_000264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.4011_4031delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1338_Arg1344del",
"transcript": "NM_001083603.3",
"protein_id": "NP_001077072.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4011,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "ENST00000437951.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.4011_4031delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1338_Arg1344del",
"transcript": "ENST00000437951.6",
"protein_id": "ENSP00000389744.2",
"transcript_support_level": 5,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1446,
"cds_start": 4011,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "NM_001083603.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "ENST00000429896.6",
"protein_id": "ENSP00000414823.2",
"transcript_support_level": 1,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3858_3878delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1287_Arg1293del",
"transcript": "NM_001354918.2",
"protein_id": "NP_001341847.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3858,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 4783,
"cdna_end": null,
"cdna_length": 8506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3816_3836delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1273_Arg1279del",
"transcript": "NM_001083602.3",
"protein_id": "NP_001077071.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3816,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4336,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3816_3836delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1273_Arg1279del",
"transcript": "ENST00000430669.6",
"protein_id": "ENSP00000410287.2",
"transcript_support_level": 5,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3816,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4422,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3816_3836delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1273_Arg1279del",
"transcript": "ENST00000711046.1",
"protein_id": "ENSP00000518556.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3816,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4336,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "NM_001083604.3",
"protein_id": "NP_001077073.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 7663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "NM_001083605.3",
"protein_id": "NP_001077074.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "NM_001083606.3",
"protein_id": "NP_001077075.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 4032,
"cdna_end": null,
"cdna_length": 7755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "NM_001083607.3",
"protein_id": "NP_001077076.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
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"cds_length": 3891,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RWGPRGAR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.3561_3581delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1188_Arg1194del",
"transcript": "ENST00000692981.1",
"protein_id": "ENSP00000510238.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 7000,
"mane_select": null,
"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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*5859_*5879delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000375290.6",
"protein_id": "ENSP00000364439.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"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,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.1078_1098delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000546744.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4389,
"mane_select": null,
"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,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.2211_2231delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000687744.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5236,
"mane_select": null,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*2322_*2342delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000690194.1",
"protein_id": "ENSP00000509379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.1361_1381delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000693534.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.4753_4773delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "NR_149061.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*5859_*5879delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000375290.6",
"protein_id": "ENSP00000364439.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.*2322_*2342delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": null,
"transcript": "ENST00000690194.1",
"protein_id": "ENSP00000509379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"dbsnp": "rs774819810",
"frequency_reference_population": 0.0004241161,
"hom_count_reference_population": 2,
"allele_count_reference_population": 684,
"gnomad_exomes_af": 0.00045256,
"gnomad_genomes_af": 0.000151131,
"gnomad_exomes_ac": 661,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"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": 5.646,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000331920.11",
"gene_symbol": "PTCH1",
"hgnc_id": 9585,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4014_4034delCTGGGGCCCTCGCGGGGCCCG",
"hgvs_p": "p.Trp1339_Arg1345del"
}
],
"clinvar_disease": " 1, susceptibility to,Basal cell carcinoma,Basal cell nevus syndrome 1,Gorlin syndrome,Hereditary cancer-predisposing syndrome,Holoprosencephaly 7,Intellectual disability,PTCH1-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:3",
"phenotype_combined": "Gorlin syndrome|Hereditary cancer-predisposing syndrome|not provided|PTCH1-related disorder|Basal cell carcinoma, susceptibility to, 1;Holoprosencephaly 7;Basal cell nevus syndrome 1|Intellectual disability",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}