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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: 4-76169923-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76169923&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76169923,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264896.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val",
"transcript": "NM_005506.4",
"protein_id": "NP_005497.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 478,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "ENST00000264896.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val",
"transcript": "ENST00000264896.8",
"protein_id": "ENSP00000264896.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 478,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "NM_005506.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "ENST00000640634.1",
"protein_id": "ENSP00000492737.1",
"transcript_support_level": 5,
"aa_start": 393,
"aa_end": null,
"aa_length": 518,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Ile350Val",
"transcript": "ENST00000639145.1",
"protein_id": "ENSP00000492831.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 475,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val",
"transcript": "ENST00000640957.1",
"protein_id": "ENSP00000492004.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 470,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val",
"transcript": "ENST00000640640.1",
"protein_id": "ENSP00000492246.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 449,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000638603.1",
"protein_id": "ENSP00000491728.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 438,
"cds_start": 937,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "NM_001204255.2",
"protein_id": "NP_001191184.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 335,
"cds_start": 628,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "ENST00000452464.6",
"protein_id": "ENSP00000399154.2",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 335,
"cds_start": 628,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "ENST00000638295.1",
"protein_id": "ENSP00000492288.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 320,
"cds_start": 583,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "XM_047416429.1",
"protein_id": "XP_047272385.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 320,
"cds_start": 583,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Ile195Val",
"transcript": "XM_047416430.1",
"protein_id": "XP_047272386.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 320,
"cds_start": 583,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4392,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.1309A>G",
"hgvs_p": null,
"transcript": "ENST00000638372.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4811,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.1057A>G",
"hgvs_p": null,
"transcript": "ENST00000638663.1",
"protein_id": "ENSP00000491407.1",
"transcript_support_level": 5,
"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": 1922,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.2638A>G",
"hgvs_p": null,
"transcript": "ENST00000638680.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 5817,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*344A>G",
"hgvs_p": null,
"transcript": "ENST00000639300.1",
"protein_id": "ENSP00000492840.1",
"transcript_support_level": 5,
"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": 4554,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*576A>G",
"hgvs_p": null,
"transcript": "ENST00000639715.1",
"protein_id": "ENSP00000491132.1",
"transcript_support_level": 5,
"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": 4355,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*697A>G",
"hgvs_p": null,
"transcript": "ENST00000640341.1",
"protein_id": "ENSP00000492714.1",
"transcript_support_level": 5,
"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": 3403,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.1033A>G",
"hgvs_p": null,
"transcript": "ENST00000682785.1",
"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": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*344A>G",
"hgvs_p": null,
"transcript": "ENST00000639300.1",
"protein_id": "ENSP00000492840.1",
"transcript_support_level": 5,
"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": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*576A>G",
"hgvs_p": null,
"transcript": "ENST00000639715.1",
"protein_id": "ENSP00000491132.1",
"transcript_support_level": 5,
"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": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*697A>G",
"hgvs_p": null,
"transcript": "ENST00000640341.1",
"protein_id": "ENSP00000492714.1",
"transcript_support_level": 5,
"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": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.276-3622A>G",
"hgvs_p": null,
"transcript": "ENST00000639738.1",
"protein_id": "ENSP00000491792.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
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"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286074",
"gene_hgnc_id": null,
"hgvs_c": "n.102+20657T>C",
"hgvs_p": null,
"transcript": "ENST00000651366.1",
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"dbsnp": "rs542349309",
"frequency_reference_population": 0.00001424925,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000123136,
"gnomad_genomes_af": 0.0000328261,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03473052382469177,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.114,
"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": -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": "ENST00000264896.8",
"gene_symbol": "SCARB2",
"hgnc_id": 1665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651366.1",
"gene_symbol": "ENSG00000286074",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102+20657T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Progressive myoclonic epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Progressive myoclonic epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}