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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: 11-812546-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=812546&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 812546,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "NM_001004.4",
"protein_id": "NP_000995.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321153.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000321153.9",
"protein_id": "ENSP00000322419.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321153.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000530797.6",
"protein_id": "ENSP00000431240.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530797.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929548.1",
"protein_id": "ENSP00000599607.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 125,
"cds_start": 184,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929548.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Leu69Phe",
"transcript": "ENST00000852318.1",
"protein_id": "ENSP00000522377.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 122,
"cds_start": 205,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852318.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929550.1",
"protein_id": "ENSP00000599609.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 120,
"cds_start": 184,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929550.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000718237.1",
"protein_id": "ENSP00000520682.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718237.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000852320.1",
"protein_id": "ENSP00000522379.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852320.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929545.1",
"protein_id": "ENSP00000599604.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929545.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929547.1",
"protein_id": "ENSP00000599606.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929547.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929551.1",
"protein_id": "ENSP00000599610.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929551.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000960563.1",
"protein_id": "ENSP00000630622.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 184,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960563.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000852319.1",
"protein_id": "ENSP00000522378.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 114,
"cds_start": 184,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852319.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000960564.1",
"protein_id": "ENSP00000630623.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 114,
"cds_start": 184,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960564.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"transcript": "ENST00000929546.1",
"protein_id": "ENSP00000599605.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 111,
"cds_start": 172,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929546.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929543.1",
"protein_id": "ENSP00000599602.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 110,
"cds_start": 184,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929543.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929542.1",
"protein_id": "ENSP00000599601.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 109,
"cds_start": 184,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929542.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000929541.1",
"protein_id": "ENSP00000599600.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 108,
"cds_start": 184,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929541.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Leu50Phe",
"transcript": "ENST00000929549.1",
"protein_id": "ENSP00000599608.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 102,
"cds_start": 148,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929549.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Leu38Phe",
"transcript": "ENST00000530398.1",
"protein_id": "ENSP00000433443.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 91,
"cds_start": 112,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530398.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.173-214C>T",
"hgvs_p": null,
"transcript": "ENST00000929544.1",
"protein_id": "ENSP00000599603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929544.1"
},
{
"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": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.286C>T",
"hgvs_p": null,
"transcript": "ENST00000525722.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.161C>T",
"hgvs_p": null,
"transcript": "ENST00000526222.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526222.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.468C>T",
"hgvs_p": null,
"transcript": "ENST00000527517.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.145C>T",
"hgvs_p": null,
"transcript": "ENST00000532004.5",
"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": "ENST00000532004.5"
}
],
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"dbsnp": null,
"frequency_reference_population": 0.0000013725423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137254,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8370394706726074,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.673,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.493,
"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_001004.4",
"gene_symbol": "RPLP2",
"hgnc_id": 10377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}