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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: 17-46938630-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46938630&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46938630,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000640051.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "NM_004287.5",
"protein_id": "NP_004278.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 212,
"cds_start": 509,
"cds_end": null,
"cds_length": 639,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "ENST00000640051.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "ENST00000640051.2",
"protein_id": "ENSP00000492751.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 212,
"cds_start": 509,
"cds_end": null,
"cds_length": 639,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "NM_004287.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "ENST00000225567.9",
"protein_id": "ENSP00000225567.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 213,
"cds_start": 509,
"cds_end": null,
"cds_length": 642,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262633",
"gene_hgnc_id": null,
"hgvs_c": "n.509A>G",
"hgvs_p": null,
"transcript": "ENST00000571841.1",
"protein_id": "ENSP00000461460.1",
"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": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "NM_001321133.2",
"protein_id": "NP_001308062.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 257,
"cds_start": 509,
"cds_end": null,
"cds_length": 774,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "ENST00000573224.2",
"protein_id": "ENSP00000461784.2",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 257,
"cds_start": 509,
"cds_end": null,
"cds_length": 774,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser",
"transcript": "NM_054022.4",
"protein_id": "NP_473363.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 213,
"cds_start": 509,
"cds_end": null,
"cds_length": 642,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asn149Ser",
"transcript": "ENST00000640723.1",
"protein_id": "ENSP00000492206.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 213,
"cds_start": 446,
"cds_end": null,
"cds_length": 642,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asn169Ser",
"transcript": "NM_001353114.2",
"protein_id": "NP_001340043.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 211,
"cds_start": 506,
"cds_end": null,
"cds_length": 636,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asn169Ser",
"transcript": "ENST00000638838.1",
"protein_id": "ENSP00000492524.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 211,
"cds_start": 506,
"cds_end": null,
"cds_length": 636,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "ENST00000576910.7",
"protein_id": "ENSP00000461673.2",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 210,
"cds_start": 503,
"cds_end": null,
"cds_length": 633,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Asn123Ser",
"transcript": "ENST00000638697.1",
"protein_id": "ENSP00000492360.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 197,
"cds_start": 368,
"cds_end": null,
"cds_length": 594,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000623037.2",
"protein_id": "ENSP00000492669.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 196,
"cds_start": 565,
"cds_end": null,
"cds_length": 591,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"transcript": "NM_001363851.2",
"protein_id": "NP_001350780.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 194,
"cds_start": 455,
"cds_end": null,
"cds_length": 585,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"transcript": "ENST00000638216.1",
"protein_id": "ENSP00000491961.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 194,
"cds_start": 455,
"cds_end": null,
"cds_length": 585,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"transcript": "ENST00000640443.1",
"protein_id": "ENSP00000492548.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 194,
"cds_start": 455,
"cds_end": null,
"cds_length": 585,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Asn123Ser",
"transcript": "NM_001330252.2",
"protein_id": "NP_001317181.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 165,
"cds_start": 368,
"cds_end": null,
"cds_length": 498,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"transcript": "NM_001353116.2",
"protein_id": "NP_001340045.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 165,
"cds_start": 365,
"cds_end": null,
"cds_length": 498,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Asn123Ser",
"transcript": "ENST00000640608.1",
"protein_id": "ENSP00000491979.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 165,
"cds_start": 368,
"cds_end": null,
"cds_length": 498,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"transcript": "NM_001353115.2",
"protein_id": "NP_001340044.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 164,
"cds_start": 365,
"cds_end": null,
"cds_length": 495,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"transcript": "ENST00000638634.1",
"protein_id": "ENSP00000491946.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 164,
"cds_start": 365,
"cds_end": null,
"cds_length": 495,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Asn127Ser",
"transcript": "ENST00000639713.1",
"protein_id": "ENSP00000491100.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 153,
"cds_start": 380,
"cds_end": null,
"cds_length": 462,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Asn105Ser",
"transcript": "NM_001321134.2",
"protein_id": "NP_001308063.1",
"transcript_support_level": null,
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"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.*28A>G",
"hgvs_p": null,
"transcript": "ENST00000570879.2",
"protein_id": "ENSP00000458154.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"dbsnp": "rs150907052",
"frequency_reference_population": 0.00028436864,
"hom_count_reference_population": 0,
"allele_count_reference_population": 459,
"gnomad_exomes_af": 0.000285936,
"gnomad_genomes_af": 0.000269315,
"gnomad_exomes_ac": 418,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21769669651985168,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.471,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.852,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000640051.2",
"gene_symbol": "GOSR2",
"hgnc_id": 4431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Asn170Ser"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000571841.1",
"gene_symbol": "ENSG00000262633",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.509A>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_024450773.2",
"gene_symbol": "LRRC37A2",
"hgnc_id": 32404,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4810-110426A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Progressive myoclonic epilepsy,Progressive myoclonic epilepsy type 6,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "not provided|Progressive myoclonic epilepsy|Inborn genetic diseases|Progressive myoclonic epilepsy type 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}