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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: 19-54220605-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54220605&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54220605,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320960.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "NM_006864.4",
"protein_id": "NP_006855.3",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 631,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445347.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006864.4"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000445347.2",
"protein_id": "ENSP00000388199.2",
"transcript_support_level": 2,
"aa_start": 394,
"aa_end": null,
"aa_length": 631,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006864.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445347.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000245620.13",
"protein_id": "ENSP00000245620.9",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 632,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245620.13"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.*688A>C",
"hgvs_p": null,
"transcript": "ENST00000414379.5",
"protein_id": "ENSP00000416920.1",
"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": "ENST00000414379.5"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.*688A>C",
"hgvs_p": null,
"transcript": "ENST00000414379.5",
"protein_id": "ENSP00000416920.1",
"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": "ENST00000414379.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "NM_001320960.2",
"protein_id": "NP_001307889.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 648,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320960.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000346401.10",
"protein_id": "ENSP00000345184.6",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 643,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346401.10"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000861603.1",
"protein_id": "ENSP00000531662.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 633,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861603.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "NM_001081450.3",
"protein_id": "NP_001074919.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 632,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081450.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000861602.1",
"protein_id": "ENSP00000531661.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 632,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861602.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "ENST00000391750.5",
"protein_id": "ENSP00000375630.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 631,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391750.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_047438108.1",
"protein_id": "XP_047294064.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 709,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438108.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_047438109.1",
"protein_id": "XP_047294065.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 650,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438109.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_011526381.3",
"protein_id": "XP_011524683.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 649,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526381.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_011526382.3",
"protein_id": "XP_011524684.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 649,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526382.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_047438110.1",
"protein_id": "XP_047294066.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 506,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438110.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser",
"transcript": "XM_047438111.1",
"protein_id": "XP_047294067.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 500,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.186A>C",
"hgvs_p": null,
"transcript": "ENST00000469273.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000469273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1212A>C",
"hgvs_p": null,
"transcript": "NR_135493.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135493.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1126A>C",
"hgvs_p": null,
"transcript": "NR_135494.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135494.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1132A>C",
"hgvs_p": null,
"transcript": "NR_135495.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135495.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1295A>C",
"hgvs_p": null,
"transcript": "NR_135496.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135496.2"
},
{
"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": 5,
"intron_rank": 3,
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"gene_symbol": "RPS9",
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"hgvs_c": "n.221-11136T>G",
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"transcript": "ENST00000448962.5",
"protein_id": "ENSP00000399623.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448962.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904768",
"gene_hgnc_id": null,
"hgvs_c": "n.710+1001T>G",
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"transcript": "XR_007067339.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007067339.1"
}
],
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"dbsnp": "rs763319782",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8183145523071289,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.8159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.695,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320960.2",
"gene_symbol": "LILRB3",
"hgnc_id": 6607,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1181A>C",
"hgvs_p": "p.Tyr394Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000448962.5",
"gene_symbol": "RPS9",
"hgnc_id": 10442,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.221-11136T>G",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067339.1",
"gene_symbol": "LOC124904768",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.710+1001T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}