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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: 4-8217145-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=8217145&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 8217145,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000245105.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "NM_018986.5",
"protein_id": "NP_061859.4",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": "ENST00000245105.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "ENST00000245105.8",
"protein_id": "ENSP00000245105.3",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": "NM_018986.5",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.553+888G>C",
"hgvs_p": null,
"transcript": "ENST00000502669.5",
"protein_id": "ENSP00000425970.1",
"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": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "ENST00000457650.7",
"protein_id": "ENSP00000390311.3",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "NM_001410712.1",
"protein_id": "NP_001397641.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1309,
"cds_start": 817,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "ENST00000684698.1",
"protein_id": "ENSP00000506945.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1309,
"cds_start": 817,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "NM_001318480.2",
"protein_id": "NP_001305409.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1260,
"cds_start": 589,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "ENST00000508641.2",
"protein_id": "ENSP00000426035.2",
"transcript_support_level": 4,
"aa_start": 197,
"aa_end": null,
"aa_length": 1260,
"cds_start": 589,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "XM_011513488.1",
"protein_id": "XP_011511790.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "XM_017008300.3",
"protein_id": "XP_016863789.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 7582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "XM_047415791.1",
"protein_id": "XP_047271747.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1336,
"cds_start": 817,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "XM_047415792.1",
"protein_id": "XP_047271748.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1309,
"cds_start": 817,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "XM_047415790.1",
"protein_id": "XP_047271746.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1260,
"cds_start": 589,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "XM_024454094.2",
"protein_id": "XP_024309862.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1233,
"cds_start": 589,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Glu102Gln",
"transcript": "XM_006713889.3",
"protein_id": "XP_006713952.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1165,
"cds_start": 304,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Glu197Gln",
"transcript": "XM_047415794.1",
"protein_id": "XP_047271750.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1062,
"cds_start": 589,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 3457,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.*348G>C",
"hgvs_p": null,
"transcript": "ENST00000507891.2",
"protein_id": "ENSP00000427316.2",
"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": 1021,
"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": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.*669G>C",
"hgvs_p": null,
"transcript": "ENST00000515682.5",
"protein_id": "ENSP00000425079.1",
"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": 4293,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.817G>C",
"hgvs_p": null,
"transcript": "ENST00000682056.1",
"protein_id": "ENSP00000507811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3961,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.817G>C",
"hgvs_p": null,
"transcript": "ENST00000682862.1",
"protein_id": "ENSP00000507502.1",
"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": 4237,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.817G>C",
"hgvs_p": null,
"transcript": "ENST00000684537.1",
"protein_id": "ENSP00000507344.1",
"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": 4024,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.761G>C",
"hgvs_p": null,
"transcript": "XR_007057930.1",
"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": 3821,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3TC1",
"gene_hgnc_id": 26009,
"hgvs_c": "n.761G>C",
"hgvs_p": null,
"transcript": "XR_007057931.1",
"protein_id": null,
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{
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{
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},
{
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],
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{
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],
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},
{
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],
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"transcript": "XM_047415795.1",
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}
],
"gene_symbol": "SH3TC1",
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"dbsnp": "rs752352025",
"frequency_reference_population": 0.0000049670252,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342852,
"gnomad_genomes_af": 0.0000197021,
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47507673501968384,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.118,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000245105.8",
"gene_symbol": "SH3TC1",
"hgnc_id": 26009,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}