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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: 12-120196855-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120196855&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120196855,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001002.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "NM_001002.4",
"protein_id": "NP_000993.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392514.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000392514.9",
"protein_id": "ENSP00000376299.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392514.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000228306.8",
"protein_id": "ENSP00000339027.3",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228306.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000551150.5",
"protein_id": "ENSP00000449328.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551150.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"transcript": "ENST00000313104.9",
"protein_id": "ENSP00000366471.4",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 255,
"cds_start": 686,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313104.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "NM_053275.4",
"protein_id": "NP_444505.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053275.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000874749.1",
"protein_id": "ENSP00000544808.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874749.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000926182.1",
"protein_id": "ENSP00000596241.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926182.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly",
"transcript": "ENST00000971889.1",
"protein_id": "ENSP00000641948.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 872,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971889.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Ala289Gly",
"transcript": "ENST00000874756.1",
"protein_id": "ENSP00000544815.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 315,
"cds_start": 866,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874756.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.860C>G",
"hgvs_p": "p.Ala287Gly",
"transcript": "ENST00000874750.1",
"protein_id": "ENSP00000544809.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 313,
"cds_start": 860,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874750.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Ala280Gly",
"transcript": "ENST00000926183.1",
"protein_id": "ENSP00000596242.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 306,
"cds_start": 839,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926183.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Ala280Gly",
"transcript": "ENST00000926187.1",
"protein_id": "ENSP00000596246.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 306,
"cds_start": 839,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926187.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.812C>G",
"hgvs_p": "p.Ala271Gly",
"transcript": "ENST00000874755.1",
"protein_id": "ENSP00000544814.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 297,
"cds_start": 812,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874755.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.809C>G",
"hgvs_p": "p.Ala270Gly",
"transcript": "ENST00000874751.1",
"protein_id": "ENSP00000544810.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 296,
"cds_start": 809,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874751.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.773C>G",
"hgvs_p": "p.Ala258Gly",
"transcript": "ENST00000926192.1",
"protein_id": "ENSP00000596251.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 284,
"cds_start": 773,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926192.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.773C>G",
"hgvs_p": "p.Ala258Gly",
"transcript": "ENST00000926197.1",
"protein_id": "ENSP00000596256.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 284,
"cds_start": 773,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926197.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Ala256Gly",
"transcript": "ENST00000874747.1",
"protein_id": "ENSP00000544806.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 282,
"cds_start": 767,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874747.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Ala256Gly",
"transcript": "ENST00000926185.1",
"protein_id": "ENSP00000596244.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 282,
"cds_start": 767,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926185.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "ENST00000546989.5",
"protein_id": "ENSP00000449205.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 281,
"cds_start": 764,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546989.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "ENST00000874753.1",
"protein_id": "ENSP00000544812.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 281,
"cds_start": 764,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874753.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.758C>G",
"hgvs_p": "p.Ala253Gly",
"transcript": "ENST00000926190.1",
"protein_id": "ENSP00000596249.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 279,
"cds_start": 758,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "ENST00000551217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*391C>G",
"hgvs_p": null,
"transcript": "ENST00000551258.5",
"protein_id": "ENSP00000448639.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551258.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.2443C>G",
"hgvs_p": null,
"transcript": "ENST00000552461.5",
"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": "retained_intron",
"feature": "ENST00000552461.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*709C>G",
"hgvs_p": null,
"transcript": "ENST00000549098.5",
"protein_id": "ENSP00000448919.1",
"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": "ENST00000549098.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*391C>G",
"hgvs_p": null,
"transcript": "ENST00000551258.5",
"protein_id": "ENSP00000448639.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551258.5"
}
],
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"dbsnp": "rs778536848",
"frequency_reference_population": 0.000017133685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171337,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14043515920639038,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1677,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.358,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001002.4",
"gene_symbol": "RPLP0",
"hgnc_id": 10371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Ala291Gly"
}
],
"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
}