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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: 3-57912604-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57912604&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57912604,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001377538.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1923T>C",
"hgvs_p": "p.Ser641Ser",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 842,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377540.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1923T>C",
"hgvs_p": "p.Ser641Ser",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 842,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671191.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1809T>C",
"hgvs_p": "p.Ser603Ser",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 804,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417128.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Ser586Ser",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 790,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449503.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Ser624Ser",
"transcript": "ENST00000438794.6",
"protein_id": "ENSP00000391886.2",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 778,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438794.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1635T>C",
"hgvs_p": "p.Ser545Ser",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 746,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428312.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Ser231Ser",
"transcript": "ENST00000416658.5",
"protein_id": "ENSP00000389978.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 432,
"cds_start": 693,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416658.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1944T>C",
"hgvs_p": "p.Ser648Ser",
"transcript": "NM_001377538.1",
"protein_id": "NP_001364467.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 852,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377538.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1944T>C",
"hgvs_p": "p.Ser648Ser",
"transcript": "ENST00000705628.1",
"protein_id": "ENSP00000516144.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 852,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705628.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1923T>C",
"hgvs_p": "p.Ser641Ser",
"transcript": "NM_001377539.1",
"protein_id": "NP_001364468.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 845,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377539.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Ser624Ser",
"transcript": "NM_001304420.3",
"protein_id": "NP_001291349.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 828,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304420.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Ser624Ser",
"transcript": "ENST00000659705.1",
"protein_id": "ENSP00000499241.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 828,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659705.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Ser624Ser",
"transcript": "NM_001377541.1",
"protein_id": "NP_001364470.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 825,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377541.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Ser624Ser",
"transcript": "NM_001377542.1",
"protein_id": "NP_001364471.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 825,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377542.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1860T>C",
"hgvs_p": "p.Ser620Ser",
"transcript": "NM_001377545.1",
"protein_id": "NP_001364474.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 821,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377545.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1848T>C",
"hgvs_p": "p.Ser616Ser",
"transcript": "ENST00000705652.1",
"protein_id": "ENSP00000516151.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 820,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705652.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Ser607Ser",
"transcript": "NM_007159.5",
"protein_id": "NP_009090.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 811,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007159.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Ser607Ser",
"transcript": "ENST00000295951.7",
"protein_id": "ENSP00000295951.3",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 811,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295951.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Ser607Ser",
"transcript": "ENST00000295952.7",
"protein_id": "ENSP00000295952.3",
"transcript_support_level": 2,
"aa_start": 607,
"aa_end": null,
"aa_length": 811,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295952.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Ser607Ser",
"transcript": "NM_001377549.1",
"protein_id": "NP_001364478.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 808,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377549.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1809T>C",
"hgvs_p": "p.Ser603Ser",
"transcript": "NM_001377551.1",
"protein_id": "NP_001364480.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 807,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2947,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377551.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1809T>C",
"hgvs_p": "p.Ser603Ser",
"transcript": "ENST00000670768.2",
"protein_id": "ENSP00000499553.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 807,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 3012,
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{
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"canonical": false,
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"exon_count": 6,
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{
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],
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"gene_symbol": "SLMAP",
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},
{
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],
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"exon_count": 4,
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"gene_symbol": "SLMAP",
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"hgvs_c": "n.*23T>C",
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"transcript": "ENST00000466255.1",
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"biotype": "retained_intron",
"feature": "ENST00000466255.1"
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],
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"dbsnp": "rs373485907",
"frequency_reference_population": 0.00016294738,
"hom_count_reference_population": 5,
"allele_count_reference_population": 263,
"gnomad_exomes_af": 0.000166917,
"gnomad_genomes_af": 0.000124823,
"gnomad_exomes_ac": 244,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04899999871850014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.763,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001377538.1",
"gene_symbol": "SLMAP",
"hgnc_id": 16643,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1944T>C",
"hgvs_p": "p.Ser648Ser"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_940867.3",
"gene_symbol": "LOC105377103",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.364+4580A>G",
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}
],
"clinvar_disease": "Brugada syndrome,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Brugada syndrome|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}