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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: 17-5521757-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5521757&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5521757,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000572272.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "NM_033004.4",
"protein_id": "NP_127497.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "ENST00000572272.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000572272.6",
"protein_id": "ENSP00000460475.1",
"transcript_support_level": 1,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "NM_033004.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3460A>G",
"hgvs_p": "p.Met1154Val",
"transcript": "ENST00000354411.8",
"protein_id": "ENSP00000346390.3",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000269280.9",
"protein_id": "ENSP00000269280.4",
"transcript_support_level": 1,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000571451.7",
"protein_id": "ENSP00000459661.3",
"transcript_support_level": 1,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3460A>G",
"hgvs_p": "p.Met1154Val",
"transcript": "ENST00000577119.5",
"protein_id": "ENSP00000460216.1",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "ENST00000699633.1",
"protein_id": "ENSP00000514491.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 4107,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000617618.5",
"protein_id": "ENSP00000478516.1",
"transcript_support_level": 5,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3460A>G",
"hgvs_p": "p.Met1154Val",
"transcript": "NM_033006.4",
"protein_id": "NP_127499.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 4012,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "NM_014922.5",
"protein_id": "NP_055737.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000576905.6",
"protein_id": "ENSP00000458303.2",
"transcript_support_level": 4,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3998,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000699634.1",
"protein_id": "ENSP00000514492.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3681,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3460A>G",
"hgvs_p": "p.Met1154Val",
"transcript": "NM_033007.4",
"protein_id": "NP_127500.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4012,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000699613.1",
"protein_id": "ENSP00000514477.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3550,
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"cdna_start": 3550,
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"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "NM_001033053.3",
"protein_id": "NP_001028225.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 4114,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "ENST00000262467.11",
"protein_id": "ENSP00000262467.5",
"transcript_support_level": 5,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3562,
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"cdna_start": 4062,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000699710.1",
"protein_id": "ENSP00000514535.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3460A>G",
"hgvs_p": "p.Met1154Val",
"transcript": "ENST00000699707.1",
"protein_id": "ENSP00000514532.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3960,
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"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val",
"transcript": "ENST00000699614.1",
"protein_id": "ENSP00000514478.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3550,
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"cdna_start": 3568,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Met139Val",
"transcript": "ENST00000699774.1",
"protein_id": "ENSP00000514580.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 324,
"cds_start": 415,
"cds_end": null,
"cds_length": 975,
"cdna_start": 417,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.3562A>G",
"hgvs_p": null,
"transcript": "ENST00000544378.7",
"protein_id": "ENSP00000442029.2",
"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": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.3541A>G",
"hgvs_p": null,
"transcript": "ENST00000572143.2",
"protein_id": "ENSP00000514476.1",
"transcript_support_level": 4,
"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": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903902",
"gene_hgnc_id": null,
"hgvs_c": "n.250+3672T>C",
"hgvs_p": null,
"transcript": "XR_007065590.1",
"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": 716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"dbsnp": "rs11651270",
"frequency_reference_population": 0.45668244,
"hom_count_reference_population": 169620,
"allele_count_reference_population": 735414,
"gnomad_exomes_af": 0.455273,
"gnomad_genomes_af": 0.470194,
"gnomad_exomes_ac": 663905,
"gnomad_genomes_ac": 71509,
"gnomad_exomes_homalt": 152613,
"gnomad_genomes_homalt": 17007,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0003052055835723877,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0482,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.546,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000572272.6",
"gene_symbol": "NLRP1",
"hgnc_id": 14374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Met1184Val"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007065590.1",
"gene_symbol": "LOC124903902",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.250+3672T>C",
"hgvs_p": null
}
],
"clinvar_disease": " congenital, juvenile recurrent,Autoinflammation with arthritis and dyskeratosis,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Respiratory papillomatosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|not provided|Autoinflammation with arthritis and dyskeratosis|Respiratory papillomatosis, juvenile recurrent, congenital|Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}