← Back to variant description
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: 14-45109775-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45109775&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45109775,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017922.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "NM_017922.4",
"protein_id": "NP_060392.3",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 669,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": "ENST00000355765.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017922.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "ENST00000355765.11",
"protein_id": "ENSP00000348010.6",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 669,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": "NM_017922.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355765.11"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "ENST00000931178.1",
"protein_id": "ENSP00000601237.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 669,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931178.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "ENST00000905876.1",
"protein_id": "ENSP00000575935.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 668,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905876.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "ENST00000961952.1",
"protein_id": "ENSP00000632011.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 651,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961952.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1063A>T",
"hgvs_p": "p.Ile355Phe",
"transcript": "ENST00000931176.1",
"protein_id": "ENSP00000601235.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 633,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931176.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1027A>T",
"hgvs_p": "p.Ile343Phe",
"transcript": "ENST00000905874.1",
"protein_id": "ENSP00000575933.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 621,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905874.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1003A>T",
"hgvs_p": "p.Ile335Phe",
"transcript": "ENST00000961951.1",
"protein_id": "ENSP00000632010.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 613,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961951.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe",
"transcript": "ENST00000961950.1",
"protein_id": "ENSP00000632009.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 606,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961950.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.913A>T",
"hgvs_p": "p.Ile305Phe",
"transcript": "ENST00000905875.1",
"protein_id": "ENSP00000575934.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 583,
"cds_start": 913,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905875.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "c.859A>T",
"hgvs_p": "p.Ile287Phe",
"transcript": "ENST00000931177.1",
"protein_id": "ENSP00000601236.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 565,
"cds_start": 859,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*1047A>T",
"hgvs_p": null,
"transcript": "ENST00000424478.5",
"protein_id": "ENSP00000390867.1",
"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": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.1980A>T",
"hgvs_p": null,
"transcript": "ENST00000477626.5",
"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,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*863A>T",
"hgvs_p": null,
"transcript": "ENST00000554081.5",
"protein_id": "ENSP00000451988.1",
"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": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*944A>T",
"hgvs_p": null,
"transcript": "ENST00000554429.5",
"protein_id": "ENSP00000451331.1",
"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": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554429.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*944A>T",
"hgvs_p": null,
"transcript": "ENST00000554439.5",
"protein_id": "ENSP00000451334.1",
"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": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.44A>T",
"hgvs_p": null,
"transcript": "ENST00000554785.1",
"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,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.33A>T",
"hgvs_p": null,
"transcript": "ENST00000556718.1",
"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": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000556718.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*264A>T",
"hgvs_p": null,
"transcript": "ENST00000557477.1",
"protein_id": "ENSP00000452516.1",
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*1047A>T",
"hgvs_p": null,
"transcript": "ENST00000424478.5",
"protein_id": "ENSP00000390867.1",
"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": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*863A>T",
"hgvs_p": null,
"transcript": "ENST00000554081.5",
"protein_id": "ENSP00000451988.1",
"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": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*944A>T",
"hgvs_p": null,
"transcript": "ENST00000554429.5",
"protein_id": "ENSP00000451331.1",
"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": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554429.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*944A>T",
"hgvs_p": null,
"transcript": "ENST00000554439.5",
"protein_id": "ENSP00000451334.1",
"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": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"hgvs_c": "n.*264A>T",
"hgvs_p": null,
"transcript": "ENST00000557477.1",
"protein_id": "ENSP00000452516.1",
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557477.1"
}
],
"gene_symbol": "PRPF39",
"gene_hgnc_id": 20314,
"dbsnp": "rs373701103",
"frequency_reference_population": 0.0000065701297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6036231517791748,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.3203,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.118,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017922.4",
"gene_symbol": "PRPF39",
"hgnc_id": 20314,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1171A>T",
"hgvs_p": "p.Ile391Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}