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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: 11-498863-GCGA-TGCCCAAGGCCCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=498863&ref=GCGA&alt=TGCCCAAGGCCCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 498863,
"ref": "GCGA",
"alt": "TGCCCAAGGCCCAG",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_002939.4",
"consequences": [
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "NM_203387.3",
"protein_id": "NP_976321.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "ENST00000354420.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203387.3"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000354420.7",
"protein_id": "ENSP00000346402.2",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "NM_203387.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354420.7"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000356187.9",
"protein_id": "ENSP00000348515.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356187.9"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000397604.7",
"protein_id": "ENSP00000380729.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397604.7"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000397615.6",
"protein_id": "ENSP00000380739.2",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397615.6"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000438658.6",
"protein_id": "ENSP00000416589.2",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438658.6"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000534797.5",
"protein_id": "ENSP00000433999.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 682,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534797.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "n.2402_2405delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": null,
"transcript": "ENST00000525522.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525522.5"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.727_730delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser243fs",
"transcript": "ENST00000972506.1",
"protein_id": "ENSP00000642565.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 476,
"cds_start": 727,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972506.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000903640.1",
"protein_id": "ENSP00000573699.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 469,
"cds_start": 682,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903640.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000972488.1",
"protein_id": "ENSP00000642547.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 469,
"cds_start": 682,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972488.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs",
"transcript": "ENST00000972509.1",
"protein_id": "ENSP00000642568.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 469,
"cds_start": 682,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972509.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000903635.1",
"protein_id": "ENSP00000573694.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903635.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000903639.1",
"protein_id": "ENSP00000573698.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903639.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000903647.1",
"protein_id": "ENSP00000573706.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903647.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000903662.1",
"protein_id": "ENSP00000573721.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903662.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000903664.1",
"protein_id": "ENSP00000573723.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903664.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000940517.1",
"protein_id": "ENSP00000610576.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940517.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000972481.1",
"protein_id": "ENSP00000642540.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972481.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000972491.1",
"protein_id": "ENSP00000642550.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 466,
"cds_start": 697,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972491.1"
},
{
"aa_ref": "SL",
"aa_alt": "LGLGH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.697_700delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000972492.1",
"protein_id": "ENSP00000642551.1",
"transcript_support_level": null,
"aa_start": 233,
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{
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],
"gene_symbol": "RNH1",
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"dbsnp": "rs1849424627",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.758,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
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"apogee2_score": null,
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"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": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_002939.4",
"gene_symbol": "RNH1",
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"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.682_685delTCGCinsCTGGGCCTTGGGCA",
"hgvs_p": "p.Ser228fs"
}
],
"clinvar_disease": " 12, acute, infection-induced, susceptibility to,Encephalitis,RNH1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RNH1-related disorder|Encephalitis, acute, infection-induced, susceptibility to, 12",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}