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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: 3-186785941-T-TTGGTGGAACAAATGTTCGAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186785941&ref=T&alt=TTGGTGGAACAAATGTTCGAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186785941,
"ref": "T",
"alt": "TTGGTGGAACAAATGTTCGAAA",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001967.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.410_430dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly137_Asn143dup",
"transcript": "NM_001967.4",
"protein_id": "NP_001958.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 407,
"cds_start": 431,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323963.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001967.4"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.410_430dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly137_Asn143dup",
"transcript": "ENST00000323963.10",
"protein_id": "ENSP00000326381.5",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 407,
"cds_start": 431,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323963.10"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000440191.6",
"protein_id": "ENSP00000398370.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 408,
"cds_start": 434,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440191.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.270_290dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000426808.5",
"protein_id": "ENSP00000392686.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000426808.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.273_293dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000443963.5",
"protein_id": "ENSP00000402313.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000443963.5"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000865630.1",
"protein_id": "ENSP00000535689.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 405,
"cds_start": 434,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865630.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000957080.1",
"protein_id": "ENSP00000627139.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 405,
"cds_start": 434,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957080.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000865627.1",
"protein_id": "ENSP00000535686.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 402,
"cds_start": 434,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865627.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.395_415dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly132_Asn138dup",
"transcript": "ENST00000928252.1",
"protein_id": "ENSP00000598311.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 402,
"cds_start": 416,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928252.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000928251.1",
"protein_id": "ENSP00000598310.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 401,
"cds_start": 434,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928251.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.392_412dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly131_Asn137dup",
"transcript": "ENST00000957081.1",
"protein_id": "ENSP00000627140.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 401,
"cds_start": 413,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957081.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000865628.1",
"protein_id": "ENSP00000535687.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 378,
"cds_start": 434,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865628.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.413_433dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly138_Asn144dup",
"transcript": "ENST00000928249.1",
"protein_id": "ENSP00000598308.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 360,
"cds_start": 434,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928249.1"
},
{
"aa_ref": "E",
"aa_alt": "GGTNVRNE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.107_127dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly36_Asn42dup",
"transcript": "ENST00000957082.1",
"protein_id": "ENSP00000627141.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 306,
"cds_start": 128,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957082.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.212-220_212-200dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000865629.1",
"protein_id": "ENSP00000535688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865629.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.212-220_212-200dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000928247.1",
"protein_id": "ENSP00000598306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928247.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.212-220_212-200dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000928248.1",
"protein_id": "ENSP00000598307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928248.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.30-1577_30-1557dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000928250.1",
"protein_id": "ENSP00000598309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.410_430dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000425053.5",
"protein_id": "ENSP00000413529.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000425053.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.270_290dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000429589.5",
"protein_id": "ENSP00000388237.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000429589.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "n.103_123dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": null,
"transcript": "ENST00000466362.1",
"protein_id": null,
"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,
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{
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{
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{
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{
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{
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{
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],
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],
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.164,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001967.4",
"gene_symbol": "EIF4A2",
"hgnc_id": 3284,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.410_430dupGTGGAACAAATGTTCGAAATG",
"hgvs_p": "p.Gly137_Asn143dup"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}