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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: 14-75438110-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75438110&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75438110,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001135049.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "NM_001135048.2",
"protein_id": "NP_001128520.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": "ENST00000651602.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135048.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000651602.1",
"protein_id": "ENSP00000498745.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": "NM_001135048.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651602.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Val75Leu",
"transcript": "ENST00000267569.5",
"protein_id": "ENSP00000267569.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 174,
"cds_start": 223,
"cds_end": null,
"cds_length": 525,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267569.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000435893.6",
"protein_id": "ENSP00000399587.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435893.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000955938.1",
"protein_id": "ENSP00000625997.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 194,
"cds_start": 190,
"cds_end": null,
"cds_length": 585,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955938.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Val75Leu",
"transcript": "NM_001135049.1",
"protein_id": "NP_001128521.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 174,
"cds_start": 223,
"cds_end": null,
"cds_length": 525,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135049.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "NM_001135047.2",
"protein_id": "NP_001128519.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135047.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "NM_130469.3",
"protein_id": "NP_569736.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130469.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000419727.6",
"protein_id": "ENSP00000415558.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419727.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000437176.5",
"protein_id": "ENSP00000409787.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437176.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000879974.1",
"protein_id": "ENSP00000550033.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879974.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000879975.1",
"protein_id": "ENSP00000550034.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879975.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000924615.1",
"protein_id": "ENSP00000594674.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924615.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000924616.1",
"protein_id": "ENSP00000594675.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 758,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924616.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000924617.1",
"protein_id": "ENSP00000594676.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924617.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000955939.1",
"protein_id": "ENSP00000625998.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955939.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000955940.1",
"protein_id": "ENSP00000625999.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955940.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000955941.1",
"protein_id": "ENSP00000626000.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
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"cdna_start": 908,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955941.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000559060.5",
"protein_id": "ENSP00000452769.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
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"cds_start": 190,
"cds_end": null,
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"cdna_start": 420,
"cdna_end": null,
"cdna_length": 631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559060.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Val107Leu",
"transcript": "XM_047430942.1",
"protein_id": "XP_047286898.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 206,
"cds_start": 319,
"cds_end": null,
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"cdna_start": 884,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430942.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Val75Leu",
"transcript": "XM_047430943.1",
"protein_id": "XP_047286899.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 174,
"cds_start": 223,
"cds_end": null,
"cds_length": 525,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430943.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Val75Leu",
"transcript": "XM_047430944.1",
"protein_id": "XP_047286900.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 174,
"cds_start": 223,
"cds_end": null,
"cds_length": 525,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430944.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "XM_005267332.5",
"protein_id": "XP_005267389.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267332.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "XM_017020973.2",
"protein_id": "XP_016876462.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 163,
"cds_start": 190,
"cds_end": null,
"cds_length": 492,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020973.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "n.370G>C",
"hgvs_p": null,
"transcript": "ENST00000558068.1",
"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": 454,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "JDP2",
"gene_hgnc_id": 17546,
"hgvs_c": "n.257G>C",
"hgvs_p": null,
"transcript": "ENST00000559773.5",
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000559773.5"
}
],
"gene_symbol": "JDP2",
"gene_hgnc_id": 17546,
"dbsnp": "rs373822498",
"frequency_reference_population": 6.870916e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87092e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.165041983127594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.54,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135049.1",
"gene_symbol": "JDP2",
"hgnc_id": 17546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Val75Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}