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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: 1-178420511-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=178420511&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 178420511,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001437625.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "NM_170692.4",
"protein_id": "NP_733793.2",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1280,
"cds_start": 565,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367649.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170692.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "ENST00000367649.8",
"protein_id": "ENSP00000356621.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 1280,
"cds_start": 565,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170692.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367649.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Gly41Arg",
"transcript": "ENST00000462775.5",
"protein_id": "ENSP00000420558.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 1139,
"cds_start": 121,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462775.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "ENST00000696605.1",
"protein_id": "ENSP00000512749.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1416,
"cds_start": 952,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696605.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "NM_001437625.1",
"protein_id": "NP_001424554.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1290,
"cds_start": 565,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437625.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "NM_001437626.1",
"protein_id": "NP_001424555.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1287,
"cds_start": 565,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437626.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "ENST00000902905.1",
"protein_id": "ENSP00000572964.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1287,
"cds_start": 565,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902905.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg",
"transcript": "NM_001437627.1",
"protein_id": "NP_001424556.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1283,
"cds_start": 565,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437627.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Gly41Arg",
"transcript": "NM_004841.5",
"protein_id": "NP_004832.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1139,
"cds_start": 121,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004841.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Gly44Arg",
"transcript": "ENST00000696607.1",
"protein_id": "ENSP00000512751.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1138,
"cds_start": 130,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696607.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Gly41Arg",
"transcript": "NM_001438676.1",
"protein_id": "NP_001425605.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1135,
"cds_start": 121,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438676.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Gly41Arg",
"transcript": "NM_001438677.1",
"protein_id": "NP_001425606.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1132,
"cds_start": 121,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438677.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.241G>C",
"hgvs_p": "p.Gly81Arg",
"transcript": "ENST00000696606.1",
"protein_id": "ENSP00000512750.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 316,
"cds_start": 241,
"cds_end": null,
"cds_length": 953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "XM_017002849.2",
"protein_id": "XP_016858338.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1419,
"cds_start": 952,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002849.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "XM_017002850.2",
"protein_id": "XP_016858339.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1416,
"cds_start": 952,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002850.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "XM_017002851.2",
"protein_id": "XP_016858340.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1412,
"cds_start": 952,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002851.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "XM_017002852.2",
"protein_id": "XP_016858341.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1409,
"cds_start": 952,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002852.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.397G>C",
"hgvs_p": "p.Gly133Arg",
"transcript": "XM_017002853.2",
"protein_id": "XP_016858342.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1234,
"cds_start": 397,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002853.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.316G>C",
"hgvs_p": "p.Gly106Arg",
"transcript": "XM_047434838.1",
"protein_id": "XP_047290794.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1197,
"cds_start": 316,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434838.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Gly72Arg",
"transcript": "XM_047434839.1",
"protein_id": "XP_047290795.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1170,
"cds_start": 214,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434839.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Gly44Arg",
"transcript": "XM_017002854.2",
"protein_id": "XP_016858343.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1145,
"cds_start": 130,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002854.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Gly41Arg",
"transcript": "XM_005245622.5",
"protein_id": "XP_005245679.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1142,
"cds_start": 121,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245622.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Gly44Arg",
"transcript": "XM_047434849.1",
"protein_id": "XP_047290805.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1142,
"cds_start": 130,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434849.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Gly44Arg",
"transcript": "XM_017002855.2",
"protein_id": "XP_016858344.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1138,
"cds_start": 130,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002855.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Gly44Arg",
"transcript": "XM_047434857.1",
"protein_id": "XP_047290813.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1135,
"cds_start": 130,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434857.1"
}
],
"gene_symbol": "RASAL2",
"gene_hgnc_id": 9874,
"dbsnp": "rs1675077175",
"frequency_reference_population": 0.0000012480733,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.89477e-7,
"gnomad_genomes_af": 0.00000657479,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6782912611961365,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.921999990940094,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.308,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9276,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.06,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999754539198559,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001437625.1",
"gene_symbol": "RASAL2",
"hgnc_id": 9874,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Gly189Arg"
}
],
"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
}