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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: 6-31540469-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31540469&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31540469,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004640.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "NM_004640.7",
"protein_id": "NP_004631.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396172.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004640.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000396172.6",
"protein_id": "ENSP00000379475.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004640.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396172.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000458640.5",
"protein_id": "ENSP00000416269.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458640.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1G2-DDX39B",
"gene_hgnc_id": 41999,
"hgvs_c": "n.*278G>C",
"hgvs_p": null,
"transcript": "ENST00000376185.5",
"protein_id": "ENSP00000365356.1",
"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": "ENST00000376185.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1G2-DDX39B",
"gene_hgnc_id": 41999,
"hgvs_c": "n.*278G>C",
"hgvs_p": null,
"transcript": "ENST00000376185.5",
"protein_id": "ENSP00000365356.1",
"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": "ENST00000376185.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866339.1",
"protein_id": "ENSP00000536398.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 456,
"cds_start": 64,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866339.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000963251.1",
"protein_id": "ENSP00000633310.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 456,
"cds_start": 64,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963251.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000963252.1",
"protein_id": "ENSP00000633311.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 456,
"cds_start": 64,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963252.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000923351.1",
"protein_id": "ENSP00000593410.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 434,
"cds_start": 64,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923351.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "NM_080598.6",
"protein_id": "NP_542165.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080598.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866323.1",
"protein_id": "ENSP00000536382.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866323.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866325.1",
"protein_id": "ENSP00000536384.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866325.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866326.1",
"protein_id": "ENSP00000536385.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866326.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866327.1",
"protein_id": "ENSP00000536386.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866327.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866328.1",
"protein_id": "ENSP00000536387.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866328.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866329.1",
"protein_id": "ENSP00000536388.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866329.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866330.1",
"protein_id": "ENSP00000536389.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866330.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866331.1",
"protein_id": "ENSP00000536390.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866331.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866332.1",
"protein_id": "ENSP00000536391.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866332.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866333.1",
"protein_id": "ENSP00000536392.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866333.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866334.1",
"protein_id": "ENSP00000536393.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866334.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro",
"transcript": "ENST00000866335.1",
"protein_id": "ENSP00000536394.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 428,
"cds_start": 64,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866335.1"
},
{
"aa_ref": "A",
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"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"hgvs_c": "n.250G>C",
"hgvs_p": null,
"transcript": "NR_037852.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037852.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1G2-DDX39B",
"gene_hgnc_id": 41999,
"hgvs_c": "n.867G>C",
"hgvs_p": null,
"transcript": "NR_037853.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1G2-DDX39B",
"gene_hgnc_id": 41999,
"hgvs_c": "n.*148G>C",
"hgvs_p": null,
"transcript": "ENST00000480131.1",
"protein_id": "ENSP00000420191.1",
"transcript_support_level": 4,
"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": "ENST00000480131.1"
}
],
"gene_symbol": "DDX39B",
"gene_hgnc_id": 13917,
"dbsnp": "rs778941682",
"frequency_reference_population": 0.0000020521463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21403279900550842,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.409,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004640.7",
"gene_symbol": "DDX39B",
"hgnc_id": 13917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Ala22Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376185.5",
"gene_symbol": "ATP6V1G2-DDX39B",
"hgnc_id": 41999,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*278G>C",
"hgvs_p": null
}
],
"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
}