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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: 22-23159242-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23159242&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23159242,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349877.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ser203Leu",
"transcript": "NM_004914.5",
"protein_id": "NP_004905.3",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 608,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263116.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004914.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ser203Leu",
"transcript": "ENST00000263116.8",
"protein_id": "ENSP00000263116.3",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 608,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004914.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263116.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"transcript": "ENST00000341989.9",
"protein_id": "ENSP00000343494.5",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 245,
"cds_start": 542,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341989.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu",
"transcript": "NM_001349877.1",
"protein_id": "NP_001336806.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 357,
"cds_start": 878,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349877.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ser203Leu",
"transcript": "ENST00000857885.1",
"protein_id": "ENSP00000527944.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 608,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857885.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ser203Leu",
"transcript": "ENST00000857886.1",
"protein_id": "ENSP00000527945.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 608,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857886.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000857887.1",
"protein_id": "ENSP00000527946.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 211,
"cds_start": 440,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857887.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu",
"transcript": "XM_011530545.3",
"protein_id": "XP_011528847.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 341,
"cds_start": 878,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530545.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Ser266Leu",
"transcript": "XM_047441618.1",
"protein_id": "XP_047297574.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 330,
"cds_start": 797,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441618.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ser242Leu",
"transcript": "XM_017029105.2",
"protein_id": "XP_016884594.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 306,
"cds_start": 725,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029105.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Trp",
"transcript": "XM_047441619.1",
"protein_id": "XP_047297575.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 298,
"cds_start": 874,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.797+9C>T",
"hgvs_p": null,
"transcript": "NM_001349878.1",
"protein_id": "NP_001336807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSPH14",
"gene_hgnc_id": 13437,
"hgvs_c": "c.-52-18770G>A",
"hgvs_p": null,
"transcript": "XM_017028774.2",
"protein_id": "XP_016884263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028774.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.869+9C>T",
"hgvs_p": null,
"transcript": "XM_006724381.5",
"protein_id": "XP_006724444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.865+9C>T",
"hgvs_p": null,
"transcript": "XM_011530544.4",
"protein_id": "XP_011528846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530544.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.788+9C>T",
"hgvs_p": null,
"transcript": "XM_017029104.2",
"protein_id": "XP_016884593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029104.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.869+9C>T",
"hgvs_p": null,
"transcript": "XM_011530546.3",
"protein_id": "XP_011528848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530546.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.716+9C>T",
"hgvs_p": null,
"transcript": "XM_011530547.3",
"protein_id": "XP_011528849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530547.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.798+263C>T",
"hgvs_p": null,
"transcript": "XM_047441620.1",
"protein_id": "XP_047297576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.485+9C>T",
"hgvs_p": null,
"transcript": "XM_017029107.2",
"protein_id": "XP_016884596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029107.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.485+9C>T",
"hgvs_p": null,
"transcript": "XM_047441621.1",
"protein_id": "XP_047297577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.645+263C>T",
"hgvs_p": null,
"transcript": "XM_047441622.1",
"protein_id": "XP_047297578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "c.323+9C>T",
"hgvs_p": null,
"transcript": "XM_011530552.3",
"protein_id": "XP_011528854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530552.3"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"hgvs_c": "n.610C>T",
"hgvs_p": null,
"transcript": "NR_146295.3",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_146295.3"
}
],
"gene_symbol": "RAB36",
"gene_hgnc_id": 9775,
"dbsnp": "rs144436994",
"frequency_reference_population": 0.00003011145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000284382,
"gnomad_genomes_af": 0.000045945,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9483520984649658,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.352,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.16,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001349877.1",
"gene_symbol": "RAB36",
"hgnc_id": 9775,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_017028774.2",
"gene_symbol": "RSPH14",
"hgnc_id": 13437,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-52-18770G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}