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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: 9-2643847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2643847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2643847,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000382100.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys",
"transcript": "NM_003383.5",
"protein_id": "NP_003374.3",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 873,
"cds_start": 954,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "ENST00000382100.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys",
"transcript": "ENST00000382100.8",
"protein_id": "ENSP00000371532.2",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 873,
"cds_start": 954,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "NM_003383.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Cys168Cys",
"transcript": "ENST00000382099.3",
"protein_id": "ENSP00000371531.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 504,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys",
"transcript": "NM_001018056.3",
"protein_id": "NP_001018066.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 845,
"cds_start": 954,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 9129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys",
"transcript": "ENST00000681306.1",
"protein_id": "ENSP00000506072.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 845,
"cds_start": 954,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Cys277Cys",
"transcript": "NM_001322225.2",
"protein_id": "NP_001309154.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 832,
"cds_start": 831,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Cys277Cys",
"transcript": "ENST00000680746.1",
"protein_id": "ENSP00000505030.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 832,
"cds_start": 831,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Cys277Cys",
"transcript": "NM_001322226.2",
"protein_id": "NP_001309155.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 804,
"cds_start": 831,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Cys277Cys",
"transcript": "ENST00000681618.1",
"protein_id": "ENSP00000505773.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 804,
"cds_start": 831,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Cys168Cys",
"transcript": "ENST00000680219.1",
"protein_id": "ENSP00000506614.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 604,
"cds_start": 504,
"cds_end": null,
"cds_length": 1816,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Cys168Cys",
"transcript": "ENST00000680296.1",
"protein_id": "ENSP00000506448.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 557,
"cds_start": 504,
"cds_end": null,
"cds_length": 1675,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys",
"transcript": "XM_047423848.1",
"protein_id": "XP_047279804.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 498,
"cds_start": 954,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2011,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1035C>T",
"hgvs_p": null,
"transcript": "ENST00000679851.1",
"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": 3951,
"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": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1154C>T",
"hgvs_p": null,
"transcript": "ENST00000680021.1",
"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": 2875,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.504C>T",
"hgvs_p": null,
"transcript": "ENST00000680043.1",
"protein_id": "ENSP00000505223.1",
"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": 3519,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.134C>T",
"hgvs_p": null,
"transcript": "ENST00000680150.1",
"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": 475,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*733C>T",
"hgvs_p": null,
"transcript": "ENST00000680243.1",
"protein_id": "ENSP00000505911.1",
"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": 3068,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*746C>T",
"hgvs_p": null,
"transcript": "ENST00000680891.1",
"protein_id": "ENSP00000505167.1",
"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": 4386,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*626C>T",
"hgvs_p": null,
"transcript": "ENST00000681644.1",
"protein_id": "ENSP00000505180.1",
"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": 5087,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.954C>T",
"hgvs_p": null,
"transcript": "ENST00000681806.1",
"protein_id": "ENSP00000505282.1",
"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": 3239,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.504C>T",
"hgvs_p": null,
"transcript": "ENST00000681942.1",
"protein_id": "ENSP00000505430.1",
"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": 2618,
"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": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*733C>T",
"hgvs_p": null,
"transcript": "ENST00000680243.1",
"protein_id": "ENSP00000505911.1",
"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": 3068,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*746C>T",
"hgvs_p": null,
"transcript": "ENST00000680891.1",
"protein_id": "ENSP00000505167.1",
"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": 4386,
"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": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*626C>T",
"hgvs_p": null,
"transcript": "ENST00000681644.1",
"protein_id": "ENSP00000505180.1",
"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": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"dbsnp": "rs373943845",
"frequency_reference_population": 0.0009788361,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1580,
"gnomad_exomes_af": 0.0010206,
"gnomad_genomes_af": 0.00057789,
"gnomad_exomes_ac": 1492,
"gnomad_genomes_ac": 88,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.073,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000382100.8",
"gene_symbol": "VLDLR",
"hgnc_id": 12698,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.954C>T",
"hgvs_p": "p.Cys318Cys"
}
],
"clinvar_disease": " and dysequilibrium syndrome 1, intellectual disability,Cerebellar ataxia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}