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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: 1-161819741-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161819741&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161819741,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367942.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "NM_007348.4",
"protein_id": "NP_031374.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 670,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": "ENST00000367942.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000367942.4",
"protein_id": "ENSP00000356919.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 670,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": "NM_007348.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000681492.1",
"protein_id": "ENSP00000506139.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 700,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "NM_001437597.1",
"protein_id": "NP_001424526.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 689,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000680688.1",
"protein_id": "ENSP00000504865.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 689,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "NM_001410890.1",
"protein_id": "NP_001397819.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 669,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 7467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000679853.1",
"protein_id": "ENSP00000506149.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 669,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 5509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000680462.1",
"protein_id": "ENSP00000505583.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 609,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Ala274Thr",
"transcript": "ENST00000681036.1",
"protein_id": "ENSP00000505474.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 604,
"cds_start": 820,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Ala274Thr",
"transcript": "ENST00000681541.1",
"protein_id": "ENSP00000506087.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 604,
"cds_start": 820,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000679833.1",
"protein_id": "ENSP00000505321.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Ala212Thr",
"transcript": "ENST00000681912.1",
"protein_id": "ENSP00000505875.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 542,
"cds_start": 634,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"transcript": "ENST00000679886.1",
"protein_id": "ENSP00000506559.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 468,
"cds_start": 412,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "XM_011509309.1",
"protein_id": "XP_011507611.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 688,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "XM_011509310.3",
"protein_id": "XP_011507612.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 595,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "XM_047449542.1",
"protein_id": "XP_047305498.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 576,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 27591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.1058G>A",
"hgvs_p": null,
"transcript": "ENST00000680180.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*641G>A",
"hgvs_p": null,
"transcript": "ENST00000680481.1",
"protein_id": "ENSP00000505919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*870G>A",
"hgvs_p": null,
"transcript": "ENST00000681001.1",
"protein_id": "ENSP00000506145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.797G>A",
"hgvs_p": null,
"transcript": "ENST00000681169.1",
"protein_id": "ENSP00000505455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.1058G>A",
"hgvs_p": null,
"transcript": "ENST00000681187.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*819G>A",
"hgvs_p": null,
"transcript": "ENST00000681557.1",
"protein_id": "ENSP00000506229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.1018G>A",
"hgvs_p": null,
"transcript": "ENST00000681738.1",
"protein_id": "ENSP00000505025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.1068G>A",
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"transcript": "ENST00000681779.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.1018G>A",
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"transcript": "ENST00000681801.1",
"protein_id": "ENSP00000505998.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*641G>A",
"hgvs_p": null,
"transcript": "ENST00000680481.1",
"protein_id": "ENSP00000505919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*870G>A",
"hgvs_p": null,
"transcript": "ENST00000681001.1",
"protein_id": "ENSP00000506145.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 3084,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "n.*819G>A",
"hgvs_p": null,
"transcript": "ENST00000681557.1",
"protein_id": "ENSP00000506229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"dbsnp": "rs749537392",
"frequency_reference_population": 0.0000049602377,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479233,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21033895015716553,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.0847,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.942,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM5",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367942.4",
"gene_symbol": "ATF6",
"hgnc_id": 791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}