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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: 3-49101424-C-CGGGAACCGGGTACGTACCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49101424&ref=C&alt=CGGGAACCGGGTACGTACCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49101424,
"ref": "C",
"alt": "CGGGAACCGGGTACGTACCT",
"effect": "frameshift_variant",
"transcript": "ENST00000306125.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.790-2_806dupAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro270fs",
"transcript": "NM_005051.3",
"protein_id": "NP_005042.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 775,
"cds_start": 806,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "ENST00000306125.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.806_807insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro270fs",
"transcript": "ENST00000306125.12",
"protein_id": "ENSP00000307567.6",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 775,
"cds_start": 806,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "NM_005051.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.371_372insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro125fs",
"transcript": "ENST00000464962.6",
"protein_id": "ENSP00000489011.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 630,
"cds_start": 371,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.757-2_773dupAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro259fs",
"transcript": "NM_001272073.2",
"protein_id": "NP_001259002.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 764,
"cds_start": 773,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.773_774insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro259fs",
"transcript": "ENST00000414533.5",
"protein_id": "ENSP00000390015.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 764,
"cds_start": 773,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.932_933insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro312fs",
"transcript": "ENST00000452739.5",
"protein_id": "ENSP00000392850.2",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 338,
"cds_start": 932,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.365_366insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro123fs",
"transcript": "ENST00000635541.1",
"protein_id": "ENSP00000489365.1",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 172,
"cds_start": 365,
"cds_end": null,
"cds_length": 521,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PGTYPVP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.790-2_806dupAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro270fs",
"transcript": "XM_017006965.3",
"protein_id": "XP_016862454.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 733,
"cds_start": 806,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2323,
"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": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*454_*455insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000430182.5",
"protein_id": "ENSP00000389823.1",
"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": 2399,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.342_343insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000470225.6",
"protein_id": null,
"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": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.739_740insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000470619.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 876,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.1103_1104insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000482261.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*303_*304insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000494767.2",
"protein_id": "ENSP00000489170.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"intron_rank": null,
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"gene_symbol": "QARS1",
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"hgvs_c": "n.593_594insAGGTACGTACCCGGTTCCC",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.1110_1111insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000635501.1",
"protein_id": null,
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "QARS1",
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},
{
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"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.638_639insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000636669.1",
"protein_id": "ENSP00000490664.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.646_647insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000637543.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "QARS1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*454_*455insAGGTACGTACCCGGTTCCC",
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"transcript": "ENST00000430182.5",
"protein_id": "ENSP00000389823.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*303_*304insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000494767.2",
"protein_id": "ENSP00000489170.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*454_*455insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000636018.1",
"protein_id": "ENSP00000489930.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.789+195_789+196insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000635443.1",
"protein_id": "ENSP00000489154.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*202_*203insAGGTACGTACCCGGTTCCC",
"hgvs_p": null,
"transcript": "ENST00000635375.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"dbsnp": "rs1553752165",
"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": 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": 9.33,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000306125.12",
"gene_symbol": "QARS1",
"hgnc_id": 9751,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.806_807insAGGTACGTACCCGGTTCCC",
"hgvs_p": "p.Pro270fs"
}
],
"clinvar_disease": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}