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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: 9-129014812-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129014812&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129014812,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438434.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "NM_020145.4",
"protein_id": "NP_064530.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 395,
"cds_start": 427,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": "ENST00000372564.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020145.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000372564.8",
"protein_id": "ENSP00000361645.3",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 395,
"cds_start": 427,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": "NM_020145.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372564.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000372554.8",
"protein_id": "ENSP00000361634.4",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 404,
"cds_start": 427,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372554.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000372559.5",
"protein_id": "ENSP00000361640.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 395,
"cds_start": 427,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372559.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940984.1",
"protein_id": "ENSP00000611043.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 442,
"cds_start": 427,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940984.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940991.1",
"protein_id": "ENSP00000611050.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 428,
"cds_start": 427,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940991.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "NM_001438434.1",
"protein_id": "NP_001425363.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 419,
"cds_start": 427,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438434.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000935421.1",
"protein_id": "ENSP00000605480.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 419,
"cds_start": 427,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935421.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.460C>A",
"hgvs_p": "p.Pro154Thr",
"transcript": "NM_001369913.1",
"protein_id": "NP_001356842.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 415,
"cds_start": 460,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369913.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940987.1",
"protein_id": "ENSP00000611046.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 427,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940987.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "NM_001287045.2",
"protein_id": "NP_001273974.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 404,
"cds_start": 427,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287045.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000935419.1",
"protein_id": "ENSP00000605478.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 403,
"cds_start": 427,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935419.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940986.1",
"protein_id": "ENSP00000611045.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 403,
"cds_start": 427,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940986.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940988.1",
"protein_id": "ENSP00000611047.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 403,
"cds_start": 427,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940988.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "NM_001438435.1",
"protein_id": "NP_001425364.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 400,
"cds_start": 427,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438435.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000417224.5",
"protein_id": "ENSP00000402566.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 400,
"cds_start": 427,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417224.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940983.1",
"protein_id": "ENSP00000611042.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 399,
"cds_start": 427,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940983.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940990.1",
"protein_id": "ENSP00000611049.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 399,
"cds_start": 427,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940990.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "NM_001287046.2",
"protein_id": "NP_001273975.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 395,
"cds_start": 427,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287046.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000935423.1",
"protein_id": "ENSP00000605482.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 394,
"cds_start": 427,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935423.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000935422.1",
"protein_id": "ENSP00000605481.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 392,
"cds_start": 427,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935422.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr",
"transcript": "ENST00000940989.1",
"protein_id": "ENSP00000611048.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 389,
"cds_start": 427,
"cds_end": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425236.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"hgvs_c": "n.*81C>A",
"hgvs_p": null,
"transcript": "ENST00000455407.5",
"protein_id": "ENSP00000396761.1",
"transcript_support_level": 2,
"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": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455407.5"
}
],
"gene_symbol": "SH3GLB2",
"gene_hgnc_id": 10834,
"dbsnp": "rs1407669751",
"frequency_reference_population": 6.840872e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84087e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9792459607124329,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.849,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6125,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.563,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001438434.1",
"gene_symbol": "SH3GLB2",
"hgnc_id": 10834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Pro143Thr"
}
],
"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
}