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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: 14-31072968-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31072968&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31072968,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000542754.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001128126.3",
"protein_id": "NP_001121598.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "ENST00000542754.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000542754.7",
"protein_id": "ENSP00000438170.2",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "NM_001128126.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000334725.8",
"protein_id": "ENSP00000334484.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 149,
"cds_start": 289,
"cds_end": null,
"cds_length": 450,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000216366.9",
"protein_id": "ENSP00000216366.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 132,
"cds_start": 289,
"cds_end": null,
"cds_length": 399,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000313566.11",
"protein_id": "ENSP00000322508.8",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 173,
"cds_start": 289,
"cds_end": null,
"cds_length": 522,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_007077.5",
"protein_id": "NP_009008.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 159,
"cds_start": 289,
"cds_end": null,
"cds_length": 480,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000554345.6",
"protein_id": "ENSP00000450768.2",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 159,
"cds_start": 289,
"cds_end": null,
"cds_length": 480,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001254727.2",
"protein_id": "NP_001241656.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 149,
"cds_start": 289,
"cds_end": null,
"cds_length": 450,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001254728.2",
"protein_id": "NP_001241657.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001254729.2",
"protein_id": "NP_001241658.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000555417.6",
"protein_id": "ENSP00000451609.2",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000556232.8",
"protein_id": "ENSP00000451918.3",
"transcript_support_level": 4,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000557346.6",
"protein_id": "ENSP00000451479.2",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 144,
"cds_start": 289,
"cds_end": null,
"cds_length": 435,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000713810.1",
"protein_id": "ENSP00000519116.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
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"cds_start": 289,
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"cdna_start": 482,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001254726.2",
"protein_id": "NP_001241655.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 135,
"cds_start": 289,
"cds_end": null,
"cds_length": 408,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000554609.6",
"protein_id": "ENSP00000452383.2",
"transcript_support_level": 5,
"aa_start": 97,
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"cds_start": 289,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000673317.1",
"protein_id": "ENSP00000500890.1",
"transcript_support_level": null,
"aa_start": 97,
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"cds_start": 289,
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"cdna_start": 510,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000713808.1",
"protein_id": "ENSP00000519114.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 130,
"cds_start": 289,
"cds_end": null,
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"cdna_start": 681,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "ENST00000713807.1",
"protein_id": "ENSP00000519113.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "XM_005267293.6",
"protein_id": "XP_005267350.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 159,
"cds_start": 289,
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"cdna_start": 1071,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "XM_011536371.4",
"protein_id": "XP_011534673.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "XM_011536372.4",
"protein_id": "XP_011534674.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 159,
"cds_start": 289,
"cds_end": null,
"cds_length": 480,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000556480.1",
"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": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "n.289C>T",
"hgvs_p": null,
"transcript": "ENST00000672143.1",
"protein_id": "ENSP00000500016.1",
"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": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "n.289C>T",
"hgvs_p": null,
"transcript": "ENST00000673001.1",
"protein_id": "ENSP00000500716.1",
"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": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"dbsnp": "rs200440467",
"frequency_reference_population": 0.00011528006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 186,
"gnomad_exomes_af": 0.000114965,
"gnomad_genomes_af": 0.000118309,
"gnomad_exomes_ac": 168,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.236,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000542754.7",
"gene_symbol": "AP4S1",
"hgnc_id": 575,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*"
}
],
"clinvar_disease": "AP4S1-related disorder,Hereditary spastic paraplegia 52,Intellectual disability,Spastic paraplegia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:16 LP:1 O:1",
"phenotype_combined": "Spastic paraplegia|Intellectual disability|AP4S1-related disorder|Hereditary spastic paraplegia 52|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}