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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: 11-46410297-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46410297&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46410297,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001267782.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Ser1063Thr",
"transcript": "NM_001387011.1",
"protein_id": "NP_001373940.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683756.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387011.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Ser1063Thr",
"transcript": "ENST00000683756.1",
"protein_id": "ENSP00000508322.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387011.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683756.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3008G>C",
"hgvs_p": "p.Ser1003Thr",
"transcript": "ENST00000534300.5",
"protein_id": "ENSP00000431926.1",
"transcript_support_level": 1,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534300.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2918G>C",
"hgvs_p": "p.Ser973Thr",
"transcript": "ENST00000314845.7",
"protein_id": "ENSP00000318313.3",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314845.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Ser944Thr",
"transcript": "ENST00000533727.5",
"protein_id": "ENSP00000433372.1",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 1179,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533727.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3197G>C",
"hgvs_p": "p.Ser1066Thr",
"transcript": "NM_001267782.2",
"protein_id": "NP_001254711.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267782.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Ser1063Thr",
"transcript": "NM_001367468.1",
"protein_id": "NP_001354397.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367468.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Ser1063Thr",
"transcript": "ENST00000458649.6",
"protein_id": "ENSP00000415327.2",
"transcript_support_level": 2,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458649.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Ser1063Thr",
"transcript": "ENST00000935632.1",
"protein_id": "ENSP00000605691.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935632.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3101G>C",
"hgvs_p": "p.Ser1034Thr",
"transcript": "ENST00000528950.1",
"protein_id": "ENSP00000433945.1",
"transcript_support_level": 5,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528950.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3101G>C",
"hgvs_p": "p.Ser1034Thr",
"transcript": "ENST00000878706.1",
"protein_id": "ENSP00000548765.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878706.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3101G>C",
"hgvs_p": "p.Ser1034Thr",
"transcript": "ENST00000935633.1",
"protein_id": "ENSP00000605692.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935633.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3077G>C",
"hgvs_p": "p.Ser1026Thr",
"transcript": "ENST00000878707.1",
"protein_id": "ENSP00000548766.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878707.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3008G>C",
"hgvs_p": "p.Ser1003Thr",
"transcript": "NM_001300731.2",
"protein_id": "NP_001287660.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300731.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3008G>C",
"hgvs_p": "p.Ser1003Thr",
"transcript": "ENST00000935635.1",
"protein_id": "ENSP00000605694.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935635.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.3008G>C",
"hgvs_p": "p.Ser1003Thr",
"transcript": "ENST00000953643.1",
"protein_id": "ENSP00000623702.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953643.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2921G>C",
"hgvs_p": "p.Ser974Thr",
"transcript": "ENST00000878708.1",
"protein_id": "ENSP00000548767.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878708.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2921G>C",
"hgvs_p": "p.Ser974Thr",
"transcript": "ENST00000935634.1",
"protein_id": "ENSP00000605693.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935634.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2921G>C",
"hgvs_p": "p.Ser974Thr",
"transcript": "ENST00000935636.1",
"protein_id": "ENSP00000605695.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935636.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2918G>C",
"hgvs_p": "p.Ser973Thr",
"transcript": "NM_001367471.1",
"protein_id": "NP_001354400.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367471.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2918G>C",
"hgvs_p": "p.Ser973Thr",
"transcript": "NM_017749.3",
"protein_id": "NP_060219.2",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017749.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"hgvs_c": "c.2912G>C",
"hgvs_p": "p.Ser971Thr",
"transcript": "ENST00000935637.1",
"protein_id": "ENSP00000605696.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
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{
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],
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},
{
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"canonical": false,
"protein_coding": true,
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],
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"transcript": "NM_001367469.1",
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"feature": "NM_001367469.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 19,
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"gene_symbol": "AMBRA1",
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"hgvs_p": "p.Ser794Thr",
"transcript": "NM_001367470.1",
"protein_id": "NP_001354399.1",
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"biotype": "protein_coding",
"feature": "NM_001367470.1"
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "AMBRA1",
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"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Ser496Thr",
"transcript": "ENST00000953644.1",
"protein_id": "ENSP00000623703.1",
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"biotype": "protein_coding",
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{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "AMBRA1",
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"hgvs_c": "c.84-1591G>C",
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"transcript": "ENST00000526545.5",
"protein_id": "ENSP00000434895.1",
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"biotype": "protein_coding",
"feature": "ENST00000526545.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
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"gene_symbol": "AMBRA1",
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"hgvs_c": "n.3351G>C",
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"transcript": "NR_160027.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160027.1"
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],
"gene_symbol": "AMBRA1",
"gene_hgnc_id": 25990,
"dbsnp": "rs780727462",
"frequency_reference_population": 0.00015243486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 246,
"gnomad_exomes_af": 0.000160785,
"gnomad_genomes_af": 0.000072261,
"gnomad_exomes_ac": 235,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09119650721549988,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.878,
"phylop100way_prediction": "Benign",
"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_001267782.2",
"gene_symbol": "AMBRA1",
"hgnc_id": 25990,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3197G>C",
"hgvs_p": "p.Ser1066Thr"
}
],
"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
}