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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: 11-119097018-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119097018&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119097018,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001382.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "NM_001382.4",
"protein_id": "NP_001373.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354202.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000354202.9",
"protein_id": "ENSP00000346142.4",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354202.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000409993.6",
"protein_id": "ENSP00000386597.2",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409993.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000867497.1",
"protein_id": "ENSP00000537556.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867497.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000938549.1",
"protein_id": "ENSP00000608608.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938549.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000945326.1",
"protein_id": "ENSP00000615385.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945326.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000867498.1",
"protein_id": "ENSP00000537557.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 395,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867498.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1150C>T",
"hgvs_p": "p.Arg384*",
"transcript": "ENST00000938551.1",
"protein_id": "ENSP00000608610.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 389,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938551.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000945327.1",
"protein_id": "ENSP00000615386.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 386,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945327.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"transcript": "ENST00000938550.1",
"protein_id": "ENSP00000608609.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 385,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938550.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374*",
"transcript": "ENST00000682791.1",
"protein_id": "ENSP00000507312.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 379,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682791.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374*",
"transcript": "ENST00000945328.1",
"protein_id": "ENSP00000615387.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 379,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945328.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372*",
"transcript": "ENST00000639704.1",
"protein_id": "ENSP00000491336.1",
"transcript_support_level": 5,
"aa_start": 372,
"aa_end": null,
"aa_length": 377,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639704.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"transcript": "XM_005271422.4",
"protein_id": "XP_005271479.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 434,
"cds_start": 1285,
"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": "XM_005271422.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "XM_047426508.1",
"protein_id": "XP_047282464.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426508.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*",
"transcript": "XM_011542648.3",
"protein_id": "XP_011540950.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 327,
"cds_start": 964,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542648.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231*",
"transcript": "XM_017017295.2",
"protein_id": "XP_016872784.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 236,
"cds_start": 691,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017295.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.*45C>T",
"hgvs_p": null,
"transcript": "ENST00000636404.1",
"protein_id": "ENSP00000490380.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636404.1"
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*912C>T",
"hgvs_p": null,
"transcript": "ENST00000392834.7",
"protein_id": "ENSP00000376579.3",
"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": "ENST00000392834.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000414373.5",
"protein_id": "ENSP00000402019.1",
"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": "ENST00000414373.5"
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*258C>T",
"hgvs_p": null,
"transcript": "ENST00000442480.1",
"protein_id": "ENSP00000406591.1",
"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": "ENST00000442480.1"
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.1431C>T",
"hgvs_p": null,
"transcript": "ENST00000445653.6",
"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": "retained_intron",
"feature": "ENST00000445653.6"
},
{
"aa_ref": null,
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"protein_id": "XP_047282466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*245C>T",
"hgvs_p": null,
"transcript": "ENST00000525456.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000525456.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*938C>T",
"hgvs_p": null,
"transcript": "ENST00000640102.1",
"protein_id": "ENSP00000492027.1",
"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": "ENST00000640102.1"
}
],
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"dbsnp": "rs141750515",
"frequency_reference_population": 0.000023543727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000239419,
"gnomad_genomes_af": 0.0000197176,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.118,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382.4",
"gene_symbol": "DPAGT1",
"hgnc_id": 2995,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 13,DPAGT1-congenital disorder of glycosylation,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myasthenic syndrome 13;DPAGT1-congenital disorder of glycosylation|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}