← Back to variant description
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: 12-50809588-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50809588&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50809588,
"ref": "C",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "ENST00000262053.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_005171.5",
"protein_id": "NP_005162.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": "ENST00000262053.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "ENST00000262053.8",
"protein_id": "ENSP00000262053.3",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": "NM_005171.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.381C>A",
"hgvs_p": "p.Tyr127*",
"transcript": "NM_001412960.1",
"protein_id": "NP_001399889.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 289,
"cds_start": 381,
"cds_end": null,
"cds_length": 870,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.372C>A",
"hgvs_p": "p.Tyr124*",
"transcript": "NM_001412961.1",
"protein_id": "NP_001399890.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 286,
"cds_start": 372,
"cds_end": null,
"cds_length": 861,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412962.1",
"protein_id": "NP_001399891.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412963.1",
"protein_id": "NP_001399892.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412964.1",
"protein_id": "NP_001399893.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412965.1",
"protein_id": "NP_001399894.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412966.1",
"protein_id": "NP_001399895.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412967.1",
"protein_id": "NP_001399896.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412968.1",
"protein_id": "NP_001399897.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 210,
"cds_start": 327,
"cds_end": null,
"cds_length": 633,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "ENST00000552487.1",
"protein_id": "ENSP00000448921.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 199,
"cds_start": 327,
"cds_end": null,
"cds_length": 600,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412969.1",
"protein_id": "NP_001399898.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412970.1",
"protein_id": "NP_001399899.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412971.1",
"protein_id": "NP_001399900.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412972.1",
"protein_id": "NP_001399901.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412973.1",
"protein_id": "NP_001399902.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412974.1",
"protein_id": "NP_001399903.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412975.1",
"protein_id": "NP_001399904.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412976.1",
"protein_id": "NP_001399905.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Tyr15*",
"transcript": "NM_001412977.1",
"protein_id": "NP_001399906.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 177,
"cds_start": 45,
"cds_end": null,
"cds_length": 534,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "ENST00000552510.5",
"protein_id": "ENSP00000448592.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 169,
"cds_start": 327,
"cds_end": null,
"cds_length": 511,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-102C>A",
"hgvs_p": null,
"transcript": "NM_001412978.1",
"protein_id": "NP_001399907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-322C>A",
"hgvs_p": null,
"transcript": "NM_001412980.1",
"protein_id": "NP_001399909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "NM_001412983.1",
"protein_id": "NP_001399912.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 123,
"cds_start": 327,
"cds_end": null,
"cds_length": 372,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.429C>A",
"hgvs_p": "p.Tyr143*",
"transcript": "XM_047428878.1",
"protein_id": "XP_047284834.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 305,
"cds_start": 429,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.351C>A",
"hgvs_p": "p.Tyr117*",
"transcript": "XM_017019331.2",
"protein_id": "XP_016874820.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 279,
"cds_start": 351,
"cds_end": null,
"cds_length": 840,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*",
"transcript": "XM_011538386.3",
"protein_id": "XP_011536688.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 271,
"cds_start": 327,
"cds_end": null,
"cds_length": 816,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "n.540C>A",
"hgvs_p": null,
"transcript": "NR_182081.1",
"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": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-102C>A",
"hgvs_p": null,
"transcript": "NM_001412978.1",
"protein_id": "NP_001399907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-322C>A",
"hgvs_p": null,
"transcript": "NM_001412980.1",
"protein_id": "NP_001399909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-77-4422C>A",
"hgvs_p": null,
"transcript": "NM_001412979.1",
"protein_id": "NP_001399908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-77-4422C>A",
"hgvs_p": null,
"transcript": "NM_001412981.1",
"protein_id": "NP_001399910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.-77-4422C>A",
"hgvs_p": null,
"transcript": "NM_001412982.1",
"protein_id": "NP_001399911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "n.94-4422C>A",
"hgvs_p": null,
"transcript": "ENST00000551831.5",
"protein_id": "ENSP00000448987.1",
"transcript_support_level": 2,
"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": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "n.*211C>A",
"hgvs_p": null,
"transcript": "ENST00000549612.5",
"protein_id": "ENSP00000448421.1",
"transcript_support_level": 5,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"dbsnp": "rs1129406",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.4339999854564667,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.011,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0373065688954146,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000262053.8",
"gene_symbol": "ATF1",
"hgnc_id": 783,
"effects": [
"stop_gained",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.327C>A",
"hgvs_p": "p.Tyr109*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}