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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: 6-108323896-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=108323896&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 108323896,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145315.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "NM_145315.5",
"protein_id": "NP_660358.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 481,
"cds_start": 211,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368977.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145315.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000368977.9",
"protein_id": "ENSP00000357973.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 481,
"cds_start": 211,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145315.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368977.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"transcript": "ENST00000908138.1",
"protein_id": "ENSP00000578197.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 498,
"cds_start": 262,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908138.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000908137.1",
"protein_id": "ENSP00000578196.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 479,
"cds_start": 211,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908137.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000955934.1",
"protein_id": "ENSP00000625993.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 471,
"cds_start": 211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955934.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000908136.1",
"protein_id": "ENSP00000578195.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 447,
"cds_start": 211,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908136.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "NM_001323005.2",
"protein_id": "NP_001309934.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 434,
"cds_start": 211,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323005.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000908142.1",
"protein_id": "ENSP00000578201.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 434,
"cds_start": 211,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908142.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000908139.1",
"protein_id": "ENSP00000578198.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 432,
"cds_start": 211,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908139.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "ENST00000908140.1",
"protein_id": "ENSP00000578199.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 370,
"cds_start": 211,
"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": "ENST00000908140.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Val38Ile",
"transcript": "ENST00000437715.1",
"protein_id": "ENSP00000392085.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 159,
"cds_start": 112,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437715.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Val38Ile",
"transcript": "XM_005266885.4",
"protein_id": "XP_005266942.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 112,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266885.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "XM_011535657.3",
"protein_id": "XP_011533959.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 447,
"cds_start": 211,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535657.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Val35Ile",
"transcript": "XM_047418557.1",
"protein_id": "XP_047274513.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 445,
"cds_start": 103,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418557.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "XM_011535659.4",
"protein_id": "XP_011533961.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 281,
"cds_start": 211,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535659.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "XM_011535660.3",
"protein_id": "XP_011533962.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 279,
"cds_start": 211,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535660.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile",
"transcript": "XM_011535661.3",
"protein_id": "XP_011533963.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 254,
"cds_start": 211,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535661.3"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.16+28678G>A",
"hgvs_p": null,
"transcript": "ENST00000421954.5",
"protein_id": "ENSP00000398225.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421954.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.139+28678G>A",
"hgvs_p": null,
"transcript": "ENST00000908141.1",
"protein_id": "ENSP00000578200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908141.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.300G>A",
"hgvs_p": null,
"transcript": "ENST00000430458.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000430458.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.237G>A",
"hgvs_p": null,
"transcript": "XR_007059229.1",
"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": "XR_007059229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.165+28678G>A",
"hgvs_p": null,
"transcript": "NR_136553.2",
"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_136553.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.-167G>A",
"hgvs_p": null,
"transcript": "XM_047418558.1",
"protein_id": "XP_047274514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.-200G>A",
"hgvs_p": null,
"transcript": "XM_047418559.1",
"protein_id": "XP_047274515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418559.1"
}
],
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"dbsnp": "rs186208029",
"frequency_reference_population": 0.00013381905,
"hom_count_reference_population": 1,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.000132707,
"gnomad_genomes_af": 0.000144497,
"gnomad_exomes_ac": 194,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02491852641105652,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.305,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145315.5",
"gene_symbol": "AFG1L",
"hgnc_id": 16411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Ile"
}
],
"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
}