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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: 8-38245878-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38245878&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38245878,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000397166.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "NM_015214.3",
"protein_id": "NP_056029.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "ENST00000397166.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "ENST00000397166.7",
"protein_id": "ENSP00000380352.2",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "NM_015214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "NM_001164232.2",
"protein_id": "NP_001157704.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 4599,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "NM_001362911.2",
"protein_id": "NP_001349840.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 3675,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "NM_001362912.2",
"protein_id": "NP_001349841.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4649,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "NM_001362914.2",
"protein_id": "NP_001349843.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 4735,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "ENST00000520272.6",
"protein_id": "ENSP00000429932.2",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 4532,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"transcript": "NM_001362913.2",
"protein_id": "NP_001349842.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 681,
"cds_start": 895,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4592,
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121*",
"transcript": "ENST00000532106.1",
"protein_id": "ENSP00000437097.1",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 181,
"cds_start": 361,
"cds_end": null,
"cds_length": 546,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 548,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "XM_011544456.3",
"protein_id": "XP_011542758.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 8480,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "XM_047421614.1",
"protein_id": "XP_047277570.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 711,
"cds_start": 985,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 5020,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"transcript": "XM_047421615.1",
"protein_id": "XP_047277571.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 681,
"cds_start": 895,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4645,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"transcript": "XM_047421616.1",
"protein_id": "XP_047277572.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 681,
"cds_start": 895,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4559,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"transcript": "XM_047421617.1",
"protein_id": "XP_047277573.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 681,
"cds_start": 895,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3585,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.*345C>T",
"hgvs_p": null,
"transcript": "ENST00000527415.5",
"protein_id": "ENSP00000432024.1",
"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": 1124,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.558C>T",
"hgvs_p": null,
"transcript": "ENST00000528888.5",
"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": 861,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"transcript": "ENST00000531344.1",
"protein_id": null,
"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": 574,
"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": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "NR_156416.2",
"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": 4614,
"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": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "NR_156417.2",
"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": 3607,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "XR_001745504.3",
"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": 2878,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "XR_007060723.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8542,
"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": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "XR_007060724.1",
"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": 2940,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "XR_007060725.1",
"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": 2840,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1178C>T",
"hgvs_p": null,
"transcript": "XR_007060726.1",
"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": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.*345C>T",
"hgvs_p": null,
"transcript": "ENST00000527415.5",
"protein_id": "ENSP00000432024.1",
"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": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"dbsnp": "rs201258800",
"frequency_reference_population": 0.0000068157033,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684074,
"gnomad_genomes_af": 0.00000657505,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.933,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000397166.7",
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 54,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "not provided|Hereditary spastic paraplegia 54",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}