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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: 12-101729109-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101729109&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101729109,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000392924.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "NM_001177949.2",
"protein_id": "NP_001171420.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": "ENST00000392924.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "ENST00000392924.2",
"protein_id": "ENSP00000376655.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": "NM_001177949.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "ENST00000266743.6",
"protein_id": "ENSP00000266743.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "ENST00000392927.7",
"protein_id": "ENSP00000376658.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1120,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*3251A>G",
"hgvs_p": null,
"transcript": "ENST00000552215.5",
"protein_id": "ENSP00000448831.1",
"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": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*3251A>G",
"hgvs_p": null,
"transcript": "ENST00000552215.5",
"protein_id": "ENSP00000448831.1",
"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": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "NM_001177948.2",
"protein_id": "NP_001171419.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "NM_153694.5",
"protein_id": "NP_710161.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 657,
"cds_end": null,
"cds_length": 711,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_005268922.6",
"protein_id": "XP_005268979.4",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_005268924.2",
"protein_id": "XP_005268981.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_005268926.5",
"protein_id": "XP_005268983.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_005268927.3",
"protein_id": "XP_005268984.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_011538421.4",
"protein_id": "XP_011536723.3",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr",
"transcript": "XM_047428913.1",
"protein_id": "XP_047284869.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 242,
"cds_start": 657,
"cds_end": null,
"cds_length": 729,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "n.3357T>C",
"hgvs_p": null,
"transcript": "ENST00000478139.1",
"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,
"cdna_end": null,
"cdna_length": 3690,
"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": "SYCP3",
"gene_hgnc_id": 18130,
"hgvs_c": "n.204T>C",
"hgvs_p": null,
"transcript": "ENST00000478238.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.82-1412A>G",
"hgvs_p": null,
"transcript": "ENST00000546873.1",
"protein_id": "ENSP00000448369.1",
"transcript_support_level": 3,
"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": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.*164A>G",
"hgvs_p": null,
"transcript": "NM_020244.3",
"protein_id": "NP_064629.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": "ENST00000229266.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.*164A>G",
"hgvs_p": null,
"transcript": "ENST00000229266.8",
"protein_id": "ENSP00000229266.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": "NM_020244.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*278A>G",
"hgvs_p": null,
"transcript": "ENST00000549128.5",
"protein_id": "ENSP00000446994.1",
"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": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*755A>G",
"hgvs_p": null,
"transcript": "ENST00000552351.5",
"protein_id": "ENSP00000447887.1",
"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": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.*164A>G",
"hgvs_p": null,
"transcript": "XM_011538574.2",
"protein_id": "XP_011536876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.*164A>G",
"hgvs_p": null,
"transcript": "XM_011538575.2",
"protein_id": "XP_011536877.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*35A>G",
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"transcript": "XR_001748818.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*35A>G",
"hgvs_p": null,
"transcript": "XR_245946.3",
"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": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYCP3",
"gene_hgnc_id": 18130,
"dbsnp": "rs769825641",
"frequency_reference_population": 0.000065878776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000686361,
"gnomad_genomes_af": 0.0000394591,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6140000224113464,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0098845383823013,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 3,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BP7",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392924.2",
"gene_symbol": "SYCP3",
"hgnc_id": 18130,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Thr219Thr"
},
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000552215.5",
"gene_symbol": "CHPT1",
"hgnc_id": 17852,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*3251A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Spermatogenic failure 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spermatogenic failure 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}