← 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: 16-23603521-TAC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23603521&ref=TAC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23603521,
"ref": "TAC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000261584.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3497_3498delGT",
"hgvs_p": "p.Gly1166fs",
"transcript": "NM_024675.4",
"protein_id": "NP_078951.2",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3651,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000261584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3497_3498delGT",
"hgvs_p": "p.Gly1166fs",
"transcript": "ENST00000261584.9",
"protein_id": "ENSP00000261584.4",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3651,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_024675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2612_2613delGT",
"hgvs_p": "p.Gly871fs",
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 891,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3503_3504delGT",
"hgvs_p": "p.Gly1168fs",
"transcript": "ENST00000561514.3",
"protein_id": "ENSP00000460666.3",
"transcript_support_level": 5,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 4503,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3503_3504delGT",
"hgvs_p": "p.Gly1168fs",
"transcript": "ENST00000697379.2",
"protein_id": "ENSP00000513287.2",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3803,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3437_3438delGT",
"hgvs_p": "p.Gly1146fs",
"transcript": "NM_001407296.1",
"protein_id": "NP_001394225.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3425_3426delGT",
"hgvs_p": "p.Gly1142fs",
"transcript": "NM_001407297.1",
"protein_id": "NP_001394226.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3341_3342delGT",
"hgvs_p": "p.Gly1114fs",
"transcript": "ENST00000697377.2",
"protein_id": "ENSP00000513286.2",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3341,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3335_3336delGT",
"hgvs_p": "p.Gly1112fs",
"transcript": "NM_001407298.1",
"protein_id": "NP_001394227.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3335,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3260_3261delGT",
"hgvs_p": "p.Gly1087fs",
"transcript": "NM_001407299.1",
"protein_id": "NP_001394228.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3260,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3260_3261delGT",
"hgvs_p": "p.Gly1087fs",
"transcript": "ENST00000713774.1",
"protein_id": "ENSP00000519076.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3260,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3415,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3218_3219delGT",
"hgvs_p": "p.Gly1073fs",
"transcript": "NM_001407300.1",
"protein_id": "NP_001394229.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2612_2613delGT",
"hgvs_p": "p.Gly871fs",
"transcript": "NM_001407304.1",
"protein_id": "NP_001394233.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 891,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 4509,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2612_2613delGT",
"hgvs_p": "p.Gly871fs",
"transcript": "NM_001407305.1",
"protein_id": "NP_001394234.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 891,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3785,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2612_2613delGT",
"hgvs_p": "p.Gly871fs",
"transcript": "NM_001407306.1",
"protein_id": "NP_001394235.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 891,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2612_2613delGT",
"hgvs_p": "p.Gly871fs",
"transcript": "ENST00000697374.1",
"protein_id": "ENSP00000513284.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 891,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 4021,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2450_2451delGT",
"hgvs_p": "p.Gly817fs",
"transcript": "NM_001407307.1",
"protein_id": "NP_001394236.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 837,
"cds_start": 2450,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 3623,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2375_2376delGT",
"hgvs_p": "p.Gly792fs",
"transcript": "NM_001407308.1",
"protein_id": "NP_001394237.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 812,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2375_2376delGT",
"hgvs_p": "p.Gly792fs",
"transcript": "NM_001407309.1",
"protein_id": "NP_001394238.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 812,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1709_1710delGT",
"hgvs_p": "p.Gly570fs",
"transcript": "NM_001407312.1",
"protein_id": "NP_001394241.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 590,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1031_1032delGT",
"hgvs_p": "p.Gly344fs",
"transcript": "NM_001407314.1",
"protein_id": "NP_001394243.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 364,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1031_1032delGT",
"hgvs_p": "p.Gly344fs",
"transcript": "ENST00000697383.1",
"protein_id": "ENSP00000513289.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 364,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*982_*983delGT",
"hgvs_p": null,
"transcript": "ENST00000565038.2",
"protein_id": "ENSP00000459882.2",
"transcript_support_level": 3,
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.4844_4845delGT",
"hgvs_p": null,
"transcript": "ENST00000697375.1",
"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": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.4017_4018delGT",
"hgvs_p": null,
"transcript": "ENST00000697378.1",
"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": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.2701_2702delGT",
"hgvs_p": null,
"transcript": "ENST00000697380.1",
"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": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.2192_2193delGT",
"hgvs_p": null,
"transcript": "ENST00000697381.1",
"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": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*274_*275delGT",
"hgvs_p": null,
"transcript": "ENST00000697382.1",
"protein_id": "ENSP00000513288.1",
"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": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*890_*891delGT",
"hgvs_p": null,
"transcript": "ENST00000713772.1",
"protein_id": "ENSP00000519074.1",
"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": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*274_*275delGT",
"hgvs_p": null,
"transcript": "ENST00000713773.1",
"protein_id": "ENSP00000519075.1",
"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": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "NM_001407301.1",
"protein_id": "NP_001394230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "ENST00000566069.6",
"protein_id": "ENSP00000459237.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "NM_001407302.1",
"protein_id": "NP_001394231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "NM_001407310.1",
"protein_id": "NP_001394239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "NM_001407311.1",
"protein_id": "NP_001394240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "ENST00000697376.1",
"protein_id": "ENSP00000513285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.*132_*133delGT",
"hgvs_p": null,
"transcript": "NM_001407313.1",
"protein_id": "NP_001394242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*982_*983delGT",
"hgvs_p": null,
"transcript": "ENST00000565038.2",
"protein_id": "ENSP00000459882.2",
"transcript_support_level": 3,
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*274_*275delGT",
"hgvs_p": null,
"transcript": "ENST00000697382.1",
"protein_id": "ENSP00000513288.1",
"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": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*890_*891delGT",
"hgvs_p": null,
"transcript": "ENST00000713772.1",
"protein_id": "ENSP00000519074.1",
"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": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.*274_*275delGT",
"hgvs_p": null,
"transcript": "ENST00000713773.1",
"protein_id": "ENSP00000519075.1",
"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": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"dbsnp": "rs587776427",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.014,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000261584.9",
"gene_symbol": "PALB2",
"hgnc_id": 26144,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3497_3498delGT",
"hgvs_p": "p.Gly1166fs"
}
],
"clinvar_disease": "Familial cancer of breast,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided|Familial cancer of breast",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}