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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: 2-43899580-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43899580&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43899580,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_133259.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Asn1199Asp",
"transcript": "NM_133259.4",
"protein_id": "NP_573566.2",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3595,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "ENST00000260665.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133259.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Asn1199Asp",
"transcript": "ENST00000260665.12",
"protein_id": "ENSP00000260665.7",
"transcript_support_level": 1,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3595,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "NM_133259.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260665.12"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3703A>G",
"hgvs_p": "p.Asn1235Asp",
"transcript": "ENST00000683125.1",
"protein_id": "ENSP00000507939.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 3732,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683125.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3634A>G",
"hgvs_p": "p.Asn1212Asp",
"transcript": "ENST00000958038.1",
"protein_id": "ENSP00000628097.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1407,
"cds_start": 3634,
"cds_end": null,
"cds_length": 4224,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958038.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3625A>G",
"hgvs_p": "p.Asn1209Asp",
"transcript": "ENST00000683220.1",
"protein_id": "ENSP00000507151.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683220.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3616A>G",
"hgvs_p": "p.Asn1206Asp",
"transcript": "ENST00000918909.1",
"protein_id": "ENSP00000588968.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3616,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918909.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3613A>G",
"hgvs_p": "p.Asn1205Asp",
"transcript": "ENST00000682480.1",
"protein_id": "ENSP00000508344.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682480.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3598A>G",
"hgvs_p": "p.Asn1200Asp",
"transcript": "ENST00000683213.1",
"protein_id": "ENSP00000507751.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3598,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683213.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3592A>G",
"hgvs_p": "p.Asn1198Asp",
"transcript": "ENST00000682546.1",
"protein_id": "ENSP00000508188.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682546.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Asn1199Asp",
"transcript": "ENST00000903379.1",
"protein_id": "ENSP00000573438.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3595,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903379.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3586A>G",
"hgvs_p": "p.Asn1196Asp",
"transcript": "ENST00000682779.1",
"protein_id": "ENSP00000507947.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3586,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 3601,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682779.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3583A>G",
"hgvs_p": "p.Asn1195Asp",
"transcript": "ENST00000918907.1",
"protein_id": "ENSP00000588966.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918907.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3583A>G",
"hgvs_p": "p.Asn1195Asp",
"transcript": "ENST00000958036.1",
"protein_id": "ENSP00000628095.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958036.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3550A>G",
"hgvs_p": "p.Asn1184Asp",
"transcript": "ENST00000682885.1",
"protein_id": "ENSP00000508036.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682885.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3613A>G",
"hgvs_p": "p.Asn1205Asp",
"transcript": "ENST00000918906.1",
"protein_id": "ENSP00000588965.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918906.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Asn1199Asp",
"transcript": "ENST00000682308.1",
"protein_id": "ENSP00000507056.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3595,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682308.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3520A>G",
"hgvs_p": "p.Asn1174Asp",
"transcript": "ENST00000918910.1",
"protein_id": "ENSP00000588969.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3520,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918910.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3586A>G",
"hgvs_p": "p.Asn1196Asp",
"transcript": "ENST00000683833.1",
"protein_id": "ENSP00000506852.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3586,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683833.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3508A>G",
"hgvs_p": "p.Asn1170Asp",
"transcript": "ENST00000918908.1",
"protein_id": "ENSP00000588967.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3508,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918908.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3502A>G",
"hgvs_p": "p.Asn1168Asp",
"transcript": "ENST00000683623.1",
"protein_id": "ENSP00000507702.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3502,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3509,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683623.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3382A>G",
"hgvs_p": "p.Asn1128Asp",
"transcript": "ENST00000903380.1",
"protein_id": "ENSP00000573439.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3382,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903380.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3343A>G",
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"protein_id": "ENSP00000506863.1",
"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": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.*3467A>G",
"hgvs_p": null,
"transcript": "ENST00000684619.1",
"protein_id": "ENSP00000508088.1",
"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": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.-153A>G",
"hgvs_p": null,
"transcript": "ENST00000684433.1",
"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": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684433.1"
}
],
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"dbsnp": "rs113974315",
"frequency_reference_population": 0.0017739476,
"hom_count_reference_population": 40,
"allele_count_reference_population": 2858,
"gnomad_exomes_af": 0.000999475,
"gnomad_genomes_af": 0.00919057,
"gnomad_exomes_ac": 1458,
"gnomad_genomes_ac": 1400,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00556105375289917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1411,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.594,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_133259.4",
"gene_symbol": "LRPPRC",
"hgnc_id": 15714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3595A>G",
"hgvs_p": "p.Asn1199Asp"
}
],
"clinvar_disease": " Saguenay-Lac-Saint-Jean type,Congenital lactic acidosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}