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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: 20-58854492-AGATCCCGACTCCGGGACAGCACCAGCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58854492&ref=AGATCCCGACTCCGGGACAGCACCAGCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58854492,
"ref": "AGATCCCGACTCCGGGACAGCACCAGCC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000676826.2",
"consequences": [
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "ENST00000371100.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "NM_080425.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000481768.6",
"protein_id": "ENSP00000499644.2",
"transcript_support_level": 1,
"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": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+13612_*42+13638delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "NM_016592.5",
"protein_id": "NP_057676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+13612_*42+13638delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "NM_016592.5",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+12623_-39+12649delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+12623_-39+12649delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+10424_-39+10450delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+13612_*42+13638delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000313949.11",
"protein_id": "ENSP00000323571.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+13612_*42+13638delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000453292.7",
"protein_id": "ENSP00000392000.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "NM_001410913.1",
"protein_id": "NP_001397842.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1233,
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"cdna_start": 1783,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "ENST00000349036.9",
"protein_id": "ENSP00000265621.6",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1233,
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"cdna_start": 1233,
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"cdna_length": 3432,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "ENST00000423897.7",
"protein_id": "ENSP00000412356.2",
"transcript_support_level": 3,
"aa_start": 411,
"aa_end": null,
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"cds_start": 1233,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "PTPGQHQPIL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1238_1264delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Pro413_Ile421del",
"transcript": "ENST00000306120.4",
"protein_id": "ENSP00000302237.4",
"transcript_support_level": 6,
"aa_start": 413,
"aa_end": null,
"aa_length": 690,
"cds_start": 1238,
"cds_end": null,
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"cdna_start": 1238,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PTPGQHQPIL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1046_1072delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Pro349_Ile357del",
"transcript": "NM_001077490.3",
"protein_id": "NP_001070958.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 626,
"cds_start": 1046,
"cds_end": null,
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"cdna_start": 1783,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "PTPGQHQPIL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1046_1072delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Pro349_Ile357del",
"transcript": "NM_001309883.1",
"protein_id": "NP_001296812.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "PDSGTAPADP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "XM_017027812.3",
"protein_id": "XP_016883301.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
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"cds_start": 1233,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": "p.Asp412_Pro420del",
"transcript": "XM_017027813.3",
"protein_id": "XP_016883302.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1233,
"cds_end": null,
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"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.1236_1262delCGACTCCGGGACAGCACCAGCCGATCC",
"hgvs_p": null,
"transcript": "ENST00000371099.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000676826.2",
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"effects": [
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"inheritance_mode": "AD,Mitochondrial,Unknown",
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"hgvs_p": "p.Asp412_Pro420del"
},
{
"score": -12,
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"BS2"
],
"verdict": "Benign",
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"gene_symbol": "GNAS-AS1",
"hgnc_id": 24872,
"effects": [
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],
"inheritance_mode": "Unknown",
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},
{
"score": -12,
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000716952.1",
"gene_symbol": "ENSG00000293655",
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"effects": [
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"inheritance_mode": "",
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}
],
"clinvar_disease": "GNAS-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1 O:1",
"phenotype_combined": "not specified|not provided|GNAS-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}