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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: 3-39391483-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39391483&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39391483,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_017875.4",
"consequences": [
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs",
"transcript": "NM_017875.4",
"protein_id": "NP_060345.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 304,
"cds_start": 324,
"cds_end": null,
"cds_length": 915,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": "ENST00000650617.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017875.4"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs",
"transcript": "ENST00000650617.1",
"protein_id": "ENSP00000497532.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 304,
"cds_start": 324,
"cds_end": null,
"cds_length": 915,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": "NM_017875.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650617.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs",
"transcript": "ENST00000885743.1",
"protein_id": "ENSP00000555802.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 336,
"cds_start": 324,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885743.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs",
"transcript": "ENST00000949226.1",
"protein_id": "ENSP00000619285.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 335,
"cds_start": 324,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949226.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.318_319delCT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000885742.1",
"protein_id": "ENSP00000555801.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 302,
"cds_start": 318,
"cds_end": null,
"cds_length": 909,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885742.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.273_274delCT",
"hgvs_p": "p.Tyr92fs",
"transcript": "ENST00000643672.1",
"protein_id": "ENSP00000494532.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 287,
"cds_start": 273,
"cds_end": null,
"cds_length": 864,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643672.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "ENST00000645280.1",
"protein_id": "ENSP00000496690.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
"cds_end": null,
"cds_length": 861,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645280.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.276_277delCT",
"hgvs_p": "p.Tyr93fs",
"transcript": "ENST00000642683.1",
"protein_id": "ENSP00000495376.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 247,
"cds_start": 276,
"cds_end": null,
"cds_length": 744,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642683.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs",
"transcript": "NM_001354798.2",
"protein_id": "NP_001341727.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 237,
"cds_start": 324,
"cds_end": null,
"cds_length": 714,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354798.2"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.117_118delCT",
"hgvs_p": "p.Tyr40fs",
"transcript": "ENST00000949227.1",
"protein_id": "ENSP00000619286.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 235,
"cds_start": 117,
"cds_end": null,
"cds_length": 708,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949227.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.312_313delCT",
"hgvs_p": "p.Tyr105fs",
"transcript": "ENST00000431510.1",
"protein_id": "ENSP00000394244.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 147,
"cds_start": 312,
"cds_end": null,
"cds_length": 444,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431510.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.306_307delCT",
"hgvs_p": "p.Tyr103fs",
"transcript": "ENST00000642978.1",
"protein_id": "ENSP00000494342.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 108,
"cds_start": 306,
"cds_end": null,
"cds_length": 328,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642978.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.306_307delCT",
"hgvs_p": "p.Tyr103fs",
"transcript": "XM_011533869.3",
"protein_id": "XP_011532171.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 298,
"cds_start": 306,
"cds_end": null,
"cds_length": 897,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533869.3"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "XM_024453611.2",
"protein_id": "XP_024309379.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
"cds_end": null,
"cds_length": 861,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453611.2"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "XM_047448413.1",
"protein_id": "XP_047304369.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
"cds_end": null,
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"cdna_start": 4320,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448413.1"
},
{
"aa_ref": "LY",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "XM_047448414.1",
"protein_id": "XP_047304370.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
"cds_end": null,
"cds_length": 861,
"cdna_start": 4800,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448414.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "XM_047448415.1",
"protein_id": "XP_047304371.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
"cds_end": null,
"cds_length": 861,
"cdna_start": 4708,
"cdna_end": null,
"cdna_length": 6130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448415.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.270_271delCT",
"hgvs_p": "p.Tyr91fs",
"transcript": "XM_047448416.1",
"protein_id": "XP_047304372.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 286,
"cds_start": 270,
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"cdna_start": 1548,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047448416.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.229-365_229-364delCT",
"hgvs_p": null,
"transcript": "ENST00000885741.1",
"protein_id": "ENSP00000555800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885741.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.70-365_70-364delCT",
"hgvs_p": null,
"transcript": "ENST00000885744.1",
"protein_id": "ENSP00000555803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.277-365_277-364delCT",
"hgvs_p": null,
"transcript": "ENST00000645630.1",
"protein_id": "ENSP00000493714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "c.70-4910_70-4909delCT",
"hgvs_p": null,
"transcript": "ENST00000929325.1",
"protein_id": "ENSP00000599384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929325.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"hgvs_c": "n.324_325delCT",
"hgvs_p": null,
"transcript": "ENST00000648579.1",
"protein_id": "ENSP00000497638.1",
"transcript_support_level": null,
"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": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648579.1"
}
],
"gene_symbol": "SLC25A38",
"gene_hgnc_id": 26054,
"dbsnp": "rs869320719",
"frequency_reference_population": 0.00027327586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 441,
"gnomad_exomes_af": 0.000282523,
"gnomad_genomes_af": 0.0001843,
"gnomad_exomes_ac": 413,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.23,
"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": 20,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 20,
"benign_score": 0,
"pathogenic_score": 20,
"criteria": [
"PVS1",
"PS3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_017875.4",
"gene_symbol": "SLC25A38",
"hgnc_id": 26054,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.324_325delCT",
"hgvs_p": "p.Tyr109fs"
}
],
"clinvar_disease": "SLC25A38-related disorder,Sideroblastic anemia 2,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"phenotype_combined": "Sideroblastic anemia 2|SLC25A38-related disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}