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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: 3-57917039-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57917039&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57917039,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000671191.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2272A>T",
"hgvs_p": "p.Ser758Cys",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 842,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2272A>T",
"hgvs_p": "p.Ser758Cys",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 842,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2158A>T",
"hgvs_p": "p.Ser720Cys",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 804,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2107A>T",
"hgvs_p": "p.Ser703Cys",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 790,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2221A>T",
"hgvs_p": "p.Ser741Cys",
"transcript": "ENST00000438794.6",
"protein_id": "ENSP00000391886.2",
"transcript_support_level": 1,
"aa_start": 741,
"aa_end": null,
"aa_length": 778,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1984A>T",
"hgvs_p": "p.Ser662Cys",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 746,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1042A>T",
"hgvs_p": "p.Ser348Cys",
"transcript": "ENST00000416658.5",
"protein_id": "ENSP00000389978.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 432,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2293A>T",
"hgvs_p": "p.Ser765Cys",
"transcript": "NM_001377538.1",
"protein_id": "NP_001364467.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 852,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2293A>T",
"hgvs_p": "p.Ser765Cys",
"transcript": "ENST00000705628.1",
"protein_id": "ENSP00000516144.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 852,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2272A>T",
"hgvs_p": "p.Ser758Cys",
"transcript": "NM_001377539.1",
"protein_id": "NP_001364468.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 845,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2221A>T",
"hgvs_p": "p.Ser741Cys",
"transcript": "NM_001304420.3",
"protein_id": "NP_001291349.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 828,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2221A>T",
"hgvs_p": "p.Ser741Cys",
"transcript": "ENST00000659705.1",
"protein_id": "ENSP00000499241.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 828,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2221A>T",
"hgvs_p": "p.Ser741Cys",
"transcript": "NM_001377541.1",
"protein_id": "NP_001364470.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 825,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2221A>T",
"hgvs_p": "p.Ser741Cys",
"transcript": "NM_001377542.1",
"protein_id": "NP_001364471.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 825,
"cds_start": 2221,
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"cds_length": 2478,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2209A>T",
"hgvs_p": "p.Ser737Cys",
"transcript": "NM_001377545.1",
"protein_id": "NP_001364474.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 821,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2197A>T",
"hgvs_p": "p.Ser733Cys",
"transcript": "ENST00000705652.1",
"protein_id": "ENSP00000516151.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 820,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Ser724Cys",
"transcript": "NM_007159.5",
"protein_id": "NP_009090.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 811,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Ser724Cys",
"transcript": "ENST00000295951.7",
"protein_id": "ENSP00000295951.3",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 811,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2170A>T",
"hgvs_p": "p.Ser724Cys",
"transcript": "ENST00000295952.7",
"protein_id": "ENSP00000295952.3",
"transcript_support_level": 2,
"aa_start": 724,
"aa_end": null,
"aa_length": 811,
"cds_start": 2170,
"cds_end": null,
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"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Ser724Cys",
"transcript": "NM_001377549.1",
"protein_id": "NP_001364478.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 808,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2158A>T",
"hgvs_p": "p.Ser720Cys",
"transcript": "NM_001377551.1",
"protein_id": "NP_001364480.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 807,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2158A>T",
"hgvs_p": "p.Ser720Cys",
"transcript": "ENST00000670768.2",
"protein_id": "ENSP00000499553.2",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 807,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
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"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": 1246,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.*68A>T",
"hgvs_p": null,
"transcript": "ENST00000476471.1",
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"dbsnp": "rs143689400",
"frequency_reference_population": 0.002001876,
"hom_count_reference_population": 4,
"allele_count_reference_population": 3231,
"gnomad_exomes_af": 0.00208051,
"gnomad_genomes_af": 0.00124736,
"gnomad_exomes_ac": 3041,
"gnomad_genomes_ac": 190,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02335047721862793,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.518,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000671191.1",
"gene_symbol": "SLMAP",
"hgnc_id": 16643,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.2272A>T",
"hgvs_p": "p.Ser758Cys"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"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+145T>A",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Brugada syndrome|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}