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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: 20-427391-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=427391&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 427391,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_001410770.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1108_1109insT",
"hgvs_p": "p.His370fs",
"transcript": "NM_031229.4",
"protein_id": "NP_112506.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 510,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356286.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031229.4"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1108_1109insT",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000356286.10",
"protein_id": "ENSP00000348632.6",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 510,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031229.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356286.10"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.982_983insT",
"hgvs_p": "p.His328fs",
"transcript": "ENST00000353660.7",
"protein_id": "ENSP00000254960.5",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 468,
"cds_start": 983,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353660.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*128_*129insT",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382181.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*72_*73insT",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382214.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*128_*129insT",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382181.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*72_*73insT",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382214.7"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1276_1277insT",
"hgvs_p": "p.His426fs",
"transcript": "ENST00000952173.1",
"protein_id": "ENSP00000622232.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 566,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952173.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1228_1229insT",
"hgvs_p": "p.His410fs",
"transcript": "ENST00000952176.1",
"protein_id": "ENSP00000622235.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 550,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952176.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1225_1226insT",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000878596.1",
"protein_id": "ENSP00000548655.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 549,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878596.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1222_1223insT",
"hgvs_p": "p.His408fs",
"transcript": "ENST00000952178.1",
"protein_id": "ENSP00000622237.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 548,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952178.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1219_1220insT",
"hgvs_p": "p.His407fs",
"transcript": "ENST00000952172.1",
"protein_id": "ENSP00000622231.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 547,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952172.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1225_1226insT",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000952177.1",
"protein_id": "ENSP00000622236.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 544,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952177.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1192_1193insT",
"hgvs_p": "p.His398fs",
"transcript": "ENST00000932273.1",
"protein_id": "ENSP00000602332.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 538,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932273.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1159_1160insT",
"hgvs_p": "p.His387fs",
"transcript": "NM_001410770.1",
"protein_id": "NP_001397699.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 527,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410770.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1159_1160insT",
"hgvs_p": "p.His387fs",
"transcript": "ENST00000697805.1",
"protein_id": "ENSP00000513446.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 527,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697805.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1159_1160insT",
"hgvs_p": "p.His387fs",
"transcript": "ENST00000952174.1",
"protein_id": "ENSP00000622233.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 523,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952174.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1123_1124insT",
"hgvs_p": "p.His375fs",
"transcript": "ENST00000952175.1",
"protein_id": "ENSP00000622234.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 515,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952175.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1105_1106insT",
"hgvs_p": "p.His369fs",
"transcript": "ENST00000878601.1",
"protein_id": "ENSP00000548660.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 509,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878601.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1102_1103insT",
"hgvs_p": "p.His368fs",
"transcript": "ENST00000952170.1",
"protein_id": "ENSP00000622229.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 508,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952170.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1099_1100insT",
"hgvs_p": "p.His367fs",
"transcript": "ENST00000878595.1",
"protein_id": "ENSP00000548654.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 507,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878595.1"
},
{
"aa_ref": "H",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1108_1109insT",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000878597.1",
"protein_id": "ENSP00000548656.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 506,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1521,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.*196-3118_*196-3117insA",
"hgvs_p": null,
"transcript": "ENST00000680792.1",
"protein_id": "ENSP00000506012.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680792.1"
}
],
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 8.558,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001410770.1",
"gene_symbol": "RBCK1",
"hgnc_id": 15864,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1159_1160insT",
"hgvs_p": "p.His387fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000680792.1",
"gene_symbol": "TBC1D20",
"hgnc_id": 16133,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*196-3118_*196-3117insA",
"hgvs_p": null
}
],
"clinvar_disease": "Polyglucosan body myopathy type 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Polyglucosan body myopathy type 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}