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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: 11-772504-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=772504&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 772504,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182612.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "NM_182612.4",
"protein_id": "NP_872418.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 220,
"cds_start": 373,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319863.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182612.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000319863.13",
"protein_id": "ENSP00000321691.8",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 220,
"cds_start": 373,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182612.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319863.13"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000397472.6",
"protein_id": "ENSP00000380612.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 250,
"cds_start": 373,
"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": "ENST00000397472.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000524550.5",
"protein_id": "ENSP00000431183.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 184,
"cds_start": 265,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524550.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.317G>A",
"hgvs_p": null,
"transcript": "ENST00000529966.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000529966.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.319G>A",
"hgvs_p": null,
"transcript": "ENST00000532320.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000532320.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.318G>A",
"hgvs_p": null,
"transcript": "ENST00000532839.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000532839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.*104G>A",
"hgvs_p": null,
"transcript": "ENST00000534603.5",
"protein_id": "ENSP00000436861.1",
"transcript_support_level": 1,
"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": "ENST00000534603.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.*104G>A",
"hgvs_p": null,
"transcript": "ENST00000534603.5",
"protein_id": "ENSP00000436861.1",
"transcript_support_level": 1,
"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": "ENST00000534603.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "NM_001318821.2",
"protein_id": "NP_001305750.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 219,
"cds_start": 373,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318821.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "NM_001410955.1",
"protein_id": "NP_001397884.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 186,
"cds_start": 373,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410955.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000526325.5",
"protein_id": "ENSP00000433322.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 186,
"cds_start": 373,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526325.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "NM_001318824.2",
"protein_id": "NP_001305753.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 184,
"cds_start": 265,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318824.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "NM_001318820.2",
"protein_id": "NP_001305749.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 183,
"cds_start": 265,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318820.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "NM_001318818.2",
"protein_id": "NP_001305747.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318818.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "NM_001318823.2",
"protein_id": "NP_001305752.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 169,
"cds_start": 223,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318823.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Ser",
"transcript": "ENST00000528309.5",
"protein_id": "ENSP00000437068.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 162,
"cds_start": 187,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528309.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"transcript": "ENST00000526650.5",
"protein_id": "ENSP00000434839.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 144,
"cds_start": 145,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526650.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Gly39Ser",
"transcript": "NM_001318822.2",
"protein_id": "NP_001305751.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 133,
"cds_start": 115,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318822.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "XM_017017662.2",
"protein_id": "XP_016873151.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 210,
"cds_start": 373,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017662.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "XM_011520064.3",
"protein_id": "XP_011518366.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 189,
"cds_start": 373,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520064.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "XM_047426880.1",
"protein_id": "XP_047282836.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 153,
"cds_start": 265,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426880.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
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"intron_rank": null,
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"transcript": "XM_017017668.2",
"protein_id": "XP_016873157.1",
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"aa_start": 75,
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"cds_length": 420,
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"biotype": "protein_coding",
"feature": "XM_017017668.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "GATD1",
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"hgvs_c": "n.265G>A",
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"transcript": "ENST00000354286.8",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000354286.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
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"gene_symbol": "GATD1",
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"transcript": "ENST00000530209.5",
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"biotype": "retained_intron",
"feature": "ENST00000530209.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "GATD1",
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"hgvs_c": "n.321G>A",
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"transcript": "NR_134867.2",
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"aa_end": null,
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "NR_134867.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 8,
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"gene_symbol": "GATD1",
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"biotype": "pseudogene",
"feature": "NR_134868.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.290G>A",
"hgvs_p": null,
"transcript": "XR_242802.4",
"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": "XR_242802.4"
}
],
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"dbsnp": "rs932401744",
"frequency_reference_population": 0.000009927344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102775,
"gnomad_genomes_af": 0.0000065697,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9372968673706055,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.623,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7547,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.74,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"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": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182612.4",
"gene_symbol": "GATD1",
"hgnc_id": 26616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser"
}
],
"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
}