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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: 1-205771540-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205771540&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205771540,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367139.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "NM_003929.3",
"protein_id": "NP_003920.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": "ENST00000367139.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "ENST00000367139.8",
"protein_id": "ENSP00000356107.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": "NM_003929.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "ENST00000235932.8",
"protein_id": "ENSP00000235932.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "ENST00000414729.1",
"protein_id": "ENSP00000402910.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Gln32Glu",
"transcript": "ENST00000437324.6",
"protein_id": "ENSP00000416613.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 94,
"cds_end": null,
"cds_length": 396,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "NM_001135662.2",
"protein_id": "NP_001129134.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "NM_001135663.2",
"protein_id": "NP_001129135.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "ENST00000446390.6",
"protein_id": "ENSP00000389899.2",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Gln32Glu",
"transcript": "NM_001135664.2",
"protein_id": "NP_001129136.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 94,
"cds_end": null,
"cds_length": 396,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "XM_005245569.2",
"protein_id": "XP_005245626.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "XM_005245570.2",
"protein_id": "XP_005245627.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "XM_005245571.2",
"protein_id": "XP_005245628.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "XM_047433505.1",
"protein_id": "XP_047289461.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 203,
"cds_start": 310,
"cds_end": null,
"cds_length": 612,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_017002748.2",
"protein_id": "XP_016858237.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
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"cdna_start": 578,
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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": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_017002749.2",
"protein_id": "XP_016858238.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_017002750.2",
"protein_id": "XP_016858239.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
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"cdna_start": 477,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_047433507.1",
"protein_id": "XP_047289463.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": 482,
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"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_047433508.1",
"protein_id": "XP_047289464.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Gln80Glu",
"transcript": "XM_047433509.1",
"protein_id": "XP_047289465.1",
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"aa_end": null,
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"cds_start": 238,
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"cdna_start": 454,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Gln32Glu",
"transcript": "XM_006711605.4",
"protein_id": "XP_006711668.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 94,
"cds_end": null,
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"cdna_start": 295,
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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": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Gln32Glu",
"transcript": "XM_006711606.4",
"protein_id": "XP_006711669.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 94,
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"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2925,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "n.428C>G",
"hgvs_p": null,
"transcript": "ENST00000492534.1",
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "n.169-686C>G",
"hgvs_p": null,
"transcript": "ENST00000468887.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "n.125-686C>G",
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"transcript": "ENST00000528078.1",
"protein_id": "ENSP00000431483.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 1571,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"hgvs_c": "n.*58C>G",
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"transcript": "ENST00000533111.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 209,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB29",
"gene_hgnc_id": 9789,
"dbsnp": "rs41302139",
"frequency_reference_population": 0.014625781,
"hom_count_reference_population": 256,
"allele_count_reference_population": 23608,
"gnomad_exomes_af": 0.0151295,
"gnomad_genomes_af": 0.00979066,
"gnomad_exomes_ac": 22117,
"gnomad_genomes_ac": 1491,
"gnomad_exomes_homalt": 243,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007671266794204712,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.0809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.016,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000367139.8",
"gene_symbol": "RAB29",
"hgnc_id": 9789,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu"
}
],
"clinvar_disease": "RAB29-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RAB29-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}