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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: 1-226888972-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226888972&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226888972,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000447.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "NM_000447.3",
"protein_id": "NP_000438.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366783.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000447.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000366783.8",
"protein_id": "ENSP00000355747.3",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000447.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366783.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000366782.6",
"protein_id": "ENSP00000355746.2",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366782.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.710C>T",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000366779.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000676945.1",
"protein_id": "ENSP00000504433.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 527,
"cds_start": 710,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676945.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ala267Val",
"transcript": "ENST00000900076.1",
"protein_id": "ENSP00000570135.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 478,
"cds_start": 800,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900076.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000677599.1",
"protein_id": "ENSP00000503673.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 471,
"cds_start": 710,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677599.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "NM_001437537.1",
"protein_id": "NP_001424466.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437537.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000524196.6",
"protein_id": "ENSP00000429036.2",
"transcript_support_level": 4,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524196.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000626989.3",
"protein_id": "ENSP00000486498.2",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626989.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000677414.1",
"protein_id": "ENSP00000503116.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677414.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000679088.1",
"protein_id": "ENSP00000504727.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679088.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900066.1",
"protein_id": "ENSP00000570125.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900066.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900069.1",
"protein_id": "ENSP00000570128.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900069.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900071.1",
"protein_id": "ENSP00000570130.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900071.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900073.1",
"protein_id": "ENSP00000570132.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900073.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900074.1",
"protein_id": "ENSP00000570133.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900074.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900075.1",
"protein_id": "ENSP00000570134.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900075.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000900077.1",
"protein_id": "ENSP00000570136.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900077.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000940855.1",
"protein_id": "ENSP00000610914.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940855.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000940856.1",
"protein_id": "ENSP00000610915.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940856.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val",
"transcript": "ENST00000940859.1",
"protein_id": "ENSP00000610918.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 448,
"cds_start": 710,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940859.1"
},
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"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.*540C>T",
"hgvs_p": null,
"transcript": "ENST00000678776.1",
"protein_id": "ENSP00000504624.1",
"transcript_support_level": null,
"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": "ENST00000678776.1"
}
],
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"dbsnp": "rs200670135",
"frequency_reference_population": 0.000022924041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000239417,
"gnomad_genomes_af": 0.0000131458,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8708860874176025,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.963,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.105,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 5,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000447.3",
"gene_symbol": "PSEN2",
"hgnc_id": 9509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Ala237Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.710C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}