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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: 4-521697-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=521697&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 521697,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000453061.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "NM_001127178.3",
"protein_id": "NP_001120650.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 983,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "ENST00000453061.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000453061.7",
"protein_id": "ENSP00000415203.2",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 983,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "NM_001127178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Leu324Pro",
"transcript": "ENST00000383028.8",
"protein_id": "ENSP00000372494.4",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 850,
"cds_start": 971,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Leu368Pro",
"transcript": "ENST00000509768.1",
"protein_id": "ENSP00000421550.1",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 480,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 3121,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.1324T>C",
"hgvs_p": null,
"transcript": "ENST00000506402.5",
"protein_id": "ENSP00000424619.1",
"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": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1346T>C",
"hgvs_p": "p.Leu449Pro",
"transcript": "NM_017733.5",
"protein_id": "NP_060203.3",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 975,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1346T>C",
"hgvs_p": "p.Leu449Pro",
"transcript": "ENST00000310340.9",
"protein_id": "ENSP00000311750.5",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 975,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Leu368Pro",
"transcript": "NM_001289051.2",
"protein_id": "NP_001275980.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 894,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Leu368Pro",
"transcript": "NM_001345986.2",
"protein_id": "NP_001332915.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 894,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Leu368Pro",
"transcript": "ENST00000504346.5",
"protein_id": "ENSP00000424800.1",
"transcript_support_level": 2,
"aa_start": 368,
"aa_end": null,
"aa_length": 894,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Leu360Pro",
"transcript": "NM_001345987.2",
"protein_id": "NP_001332916.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 886,
"cds_start": 1079,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Leu324Pro",
"transcript": "NM_001289052.2",
"protein_id": "NP_001275981.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 850,
"cds_start": 971,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro",
"transcript": "NM_001345988.2",
"protein_id": "NP_001332917.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 640,
"cds_start": 341,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "NM_001345994.2",
"protein_id": "NP_001332923.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 617,
"cds_start": 272,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "NM_001345989.2",
"protein_id": "NP_001332918.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 612,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Leu368Pro",
"transcript": "NM_001289053.2",
"protein_id": "NP_001275982.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 480,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.958T>C",
"hgvs_p": "p.Cys320Arg",
"transcript": "NM_001289055.2",
"protein_id": "NP_001275984.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 341,
"cds_start": 958,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "XM_011513490.4",
"protein_id": "XP_011511792.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 930,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1004T>C",
"hgvs_p": "p.Leu335Pro",
"transcript": "XM_047415846.1",
"protein_id": "XP_047271802.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 861,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "XM_047415847.1",
"protein_id": "XP_047271803.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 701,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Leu360Pro",
"transcript": "XM_047415848.1",
"protein_id": "XP_047271804.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 657,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.296T>C",
"hgvs_p": "p.Leu99Pro",
"transcript": "XM_011513492.2",
"protein_id": "XP_011511794.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 625,
"cds_start": 296,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1370T>C",
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"exon_count": 12,
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"gene_symbol": "PIGG",
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"hgvs_c": "n.1496T>C",
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"transcript": "XR_924965.4",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PIGG",
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"hgvs_c": "c.-164T>C",
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"transcript": "NM_001345990.2",
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"cdna_length": 4001,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
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"exon_rank": 8,
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"exon_count": 13,
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"gene_symbol": "PIGG",
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"transcript": "NM_001345991.2",
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4099,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "PIGG",
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"hgvs_c": "n.*833T>C",
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"transcript": "ENST00000504187.5",
"protein_id": "ENSP00000427069.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "PIGG",
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"hgvs_c": "n.-193T>C",
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"transcript": "ENST00000508562.1",
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"transcript_support_level": 4,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.-60T>C",
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"transcript": "ENST00000513679.1",
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"transcript_support_level": 4,
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"dbsnp": "rs757348373",
"frequency_reference_population": 0.000025399515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000266782,
"gnomad_genomes_af": 0.0000131287,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.929042637348175,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.046,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453061.7",
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro"
}
],
"clinvar_disease": " autosomal recessive 53,Intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Intellectual disability, autosomal recessive 53|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}