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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: 14-64221631-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64221631&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64221631,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000555002.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20117G>A",
"hgvs_p": "p.Arg6706Gln",
"transcript": "NM_182914.3",
"protein_id": "NP_878918.2",
"transcript_support_level": null,
"aa_start": 6706,
"aa_end": null,
"aa_length": 6907,
"cds_start": 20117,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 20308,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "ENST00000555002.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20117G>A",
"hgvs_p": "p.Arg6706Gln",
"transcript": "ENST00000555002.6",
"protein_id": "ENSP00000450831.2",
"transcript_support_level": 1,
"aa_start": 6706,
"aa_end": null,
"aa_length": 6907,
"cds_start": 20117,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 20308,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "NM_182914.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 111,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20048G>A",
"hgvs_p": "p.Arg6683Gln",
"transcript": "ENST00000344113.8",
"protein_id": "ENSP00000341781.4",
"transcript_support_level": 1,
"aa_start": 6683,
"aa_end": null,
"aa_length": 6885,
"cds_start": 20048,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 20260,
"cdna_end": null,
"cdna_length": 21777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "ENST00000458046.6",
"protein_id": "ENSP00000391937.2",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 556,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2669,
"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": 59,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.9581G>A",
"hgvs_p": null,
"transcript": "ENST00000394768.6",
"protein_id": null,
"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": 11095,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.1573G>A",
"hgvs_p": null,
"transcript": "ENST00000441438.2",
"protein_id": null,
"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": 3084,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.1967G>A",
"hgvs_p": null,
"transcript": "ENST00000554805.6",
"protein_id": null,
"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": 3481,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.1882G>A",
"hgvs_p": null,
"transcript": "ENST00000555022.5",
"protein_id": null,
"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": 3396,
"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": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.*1869G>A",
"hgvs_p": null,
"transcript": "ENST00000555612.5",
"protein_id": "ENSP00000451972.2",
"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": 6766,
"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": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.*1869G>A",
"hgvs_p": null,
"transcript": "ENST00000555612.5",
"protein_id": "ENSP00000451972.2",
"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": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20117G>A",
"hgvs_p": "p.Arg6706Gln",
"transcript": "ENST00000358025.7",
"protein_id": "ENSP00000350719.3",
"transcript_support_level": 5,
"aa_start": 6706,
"aa_end": null,
"aa_length": 6907,
"cds_start": 20117,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 20329,
"cdna_end": null,
"cdna_length": 21842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 111,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20048G>A",
"hgvs_p": "p.Arg6683Gln",
"transcript": "NM_015180.6",
"protein_id": "NP_055995.4",
"transcript_support_level": null,
"aa_start": 6683,
"aa_end": null,
"aa_length": 6885,
"cds_start": 20048,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 20239,
"cdna_end": null,
"cdna_length": 21756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 111,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.19796G>A",
"hgvs_p": "p.Arg6599Gln",
"transcript": "ENST00000554584.5",
"protein_id": "ENSP00000452570.1",
"transcript_support_level": 5,
"aa_start": 6599,
"aa_end": null,
"aa_length": 6818,
"cds_start": 19796,
"cds_end": null,
"cds_length": 20457,
"cdna_start": 19847,
"cdna_end": null,
"cdna_length": 20508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "NM_182913.4",
"protein_id": "NP_878917.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 556,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_182910.2",
"protein_id": "NP_878914.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 429,
"cds_start": 683,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_011536574.2",
"protein_id": "XP_011534876.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20392,
"cdna_end": null,
"cdna_length": 21925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_011536575.3",
"protein_id": "XP_011534877.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20478,
"cdna_end": null,
"cdna_length": 22011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 113,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_011536576.3",
"protein_id": "XP_011534878.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20645,
"cdna_end": null,
"cdna_length": 22178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_011536577.3",
"protein_id": "XP_011534879.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20329,
"cdna_end": null,
"cdna_length": 21862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_017021101.2",
"protein_id": "XP_016876590.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 30541,
"cdna_end": null,
"cdna_length": 32074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_047431149.1",
"protein_id": "XP_047287105.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20396,
"cdna_end": null,
"cdna_length": 21929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
"hgvs_p": "p.Arg6734Gln",
"transcript": "XM_047431150.1",
"protein_id": "XP_047287106.1",
"transcript_support_level": null,
"aa_start": 6734,
"aa_end": null,
"aa_length": 6936,
"cds_start": 20201,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 20284,
"cdna_end": null,
"cdna_length": 21817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 112,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.20201G>A",
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"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": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.*1923G>A",
"hgvs_p": null,
"transcript": "ENST00000553289.5",
"protein_id": "ENSP00000451184.2",
"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,
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"cdna_length": 5261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1406+13339C>T",
"hgvs_p": null,
"transcript": "ENST00000556275.5",
"protein_id": "ENSP00000452485.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"dbsnp": "rs35831865",
"frequency_reference_population": 0.00055262516,
"hom_count_reference_population": 8,
"allele_count_reference_population": 892,
"gnomad_exomes_af": 0.000309188,
"gnomad_genomes_af": 0.00289055,
"gnomad_exomes_ac": 452,
"gnomad_genomes_ac": 440,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007849365472793579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.73,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000555002.6",
"gene_symbol": "SYNE2",
"hgnc_id": 17084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.20117G>A",
"hgvs_p": "p.Arg6706Gln"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000556275.5",
"gene_symbol": "ESR2",
"hgnc_id": 3468,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1406+13339C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant,Emery-Dreifuss muscular dystrophy 5,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}