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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: 3-105685324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105685324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105685324,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321786.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170662.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394030.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Val761Ile",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321786.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Val761Ile",
"transcript": "ENST00000954009.1",
"protein_id": "ENSP00000624068.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954009.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000954008.1",
"protein_id": "ENSP00000624067.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2197,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954008.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321788.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856782.1",
"protein_id": "ENSP00000526841.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856782.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856785.1",
"protein_id": "ENSP00000526844.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856785.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000954010.1",
"protein_id": "ENSP00000624069.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 982,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954010.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856783.1",
"protein_id": "ENSP00000526842.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 981,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856783.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Val755Ile",
"transcript": "NM_001321790.2",
"protein_id": "NP_001308719.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 960,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321790.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856779.1",
"protein_id": "ENSP00000526838.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 958,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856779.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "NM_001321791.2",
"protein_id": "NP_001308720.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 938,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321791.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "NM_001321793.2",
"protein_id": "NP_001308722.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 938,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321793.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856778.1",
"protein_id": "ENSP00000526837.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 938,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856778.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000856786.1",
"protein_id": "ENSP00000526845.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 938,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856786.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Val733Ile",
"transcript": "ENST00000931151.1",
"protein_id": "ENSP00000601210.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 938,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931151.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 933,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321796.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "ENST00000856780.1",
"protein_id": "ENSP00000526839.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 933,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856780.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Val665Ile",
"transcript": "ENST00000856784.1",
"protein_id": "ENSP00000526843.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 914,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856784.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "NM_001321799.2",
"protein_id": "NP_001308728.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 889,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321799.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "ENST00000856781.1",
"protein_id": "ENSP00000526840.1",
"transcript_support_level": null,
"aa_start": 684,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645759.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "CBLB",
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"hgvs_c": "n.*1813G>A",
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"transcript": "ENST00000646499.1",
"protein_id": "ENSP00000496708.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646499.1"
}
],
"gene_symbol": "CBLB",
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"dbsnp": "rs535043797",
"frequency_reference_population": 0.000002052722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205272,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0562157928943634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.327,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0628,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001321786.1",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Val761Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}