← 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: 16-4340357-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4340357&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4340357,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001201479.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Gln114Lys",
"transcript": "NM_016069.11",
"protein_id": "NP_057153.8",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 125,
"cds_start": 340,
"cds_end": null,
"cds_length": 378,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 533,
"mane_select": "ENST00000318059.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016069.11"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Gln114Lys",
"transcript": "ENST00000318059.8",
"protein_id": "ENSP00000315693.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 125,
"cds_start": 340,
"cds_end": null,
"cds_length": 378,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 533,
"mane_select": "NM_016069.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318059.8"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "c.3109C>A",
"hgvs_p": "p.Gln1037Lys",
"transcript": "ENST00000572467.5",
"protein_id": "ENSP00000460885.1",
"transcript_support_level": 2,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572467.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.596C>A",
"hgvs_p": null,
"transcript": "ENST00000573236.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000573236.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "c.3109C>A",
"hgvs_p": "p.Gln1037Lys",
"transcript": "NM_001201479.2",
"protein_id": "NP_001188408.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201479.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.448C>A",
"hgvs_p": "p.Gln150Lys",
"transcript": "ENST00000911836.1",
"protein_id": "ENSP00000581895.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 161,
"cds_start": 448,
"cds_end": null,
"cds_length": 486,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911836.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000571941.5",
"protein_id": "ENSP00000460708.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 145,
"cds_start": 400,
"cds_end": null,
"cds_length": 438,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571941.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000573553.5",
"protein_id": "ENSP00000459955.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 145,
"cds_start": 400,
"cds_end": null,
"cds_length": 438,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573553.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Gln126Lys",
"transcript": "ENST00000575848.5",
"protein_id": "ENSP00000458412.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 137,
"cds_start": 376,
"cds_end": null,
"cds_length": 414,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575848.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.367C>A",
"hgvs_p": "p.Gln123Lys",
"transcript": "ENST00000911833.1",
"protein_id": "ENSP00000581892.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 134,
"cds_start": 367,
"cds_end": null,
"cds_length": 405,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911833.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Gln114Lys",
"transcript": "ENST00000576217.1",
"protein_id": "ENSP00000461047.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 125,
"cds_start": 340,
"cds_end": null,
"cds_length": 378,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576217.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Gln112Lys",
"transcript": "ENST00000911828.1",
"protein_id": "ENSP00000581887.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 123,
"cds_start": 334,
"cds_end": null,
"cds_length": 372,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911828.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.325C>A",
"hgvs_p": "p.Gln109Lys",
"transcript": "ENST00000911831.1",
"protein_id": "ENSP00000581890.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 120,
"cds_start": 325,
"cds_end": null,
"cds_length": 363,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911831.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.319C>A",
"hgvs_p": "p.Gln107Lys",
"transcript": "ENST00000911830.1",
"protein_id": "ENSP00000581889.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 118,
"cds_start": 319,
"cds_end": null,
"cds_length": 357,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911830.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000911834.1",
"protein_id": "ENSP00000581893.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 112,
"cds_start": 301,
"cds_end": null,
"cds_length": 339,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911834.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.295C>A",
"hgvs_p": "p.Gln99Lys",
"transcript": "ENST00000911832.1",
"protein_id": "ENSP00000581891.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 110,
"cds_start": 295,
"cds_end": null,
"cds_length": 333,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911832.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Gln92Lys",
"transcript": "ENST00000911829.1",
"protein_id": "ENSP00000581888.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 103,
"cds_start": 274,
"cds_end": null,
"cds_length": 312,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911829.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.118C>A",
"hgvs_p": "p.Gln40Lys",
"transcript": "ENST00000911835.1",
"protein_id": "ENSP00000581894.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 51,
"cds_start": 118,
"cds_end": null,
"cds_length": 156,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "c.291+563C>A",
"hgvs_p": null,
"transcript": "ENST00000577031.5",
"protein_id": "ENSP00000459113.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*135C>A",
"hgvs_p": null,
"transcript": "ENST00000571178.1",
"protein_id": "ENSP00000460434.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 353,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000571986.5",
"protein_id": "ENSP00000459802.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571986.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000573450.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573450.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.544C>A",
"hgvs_p": null,
"transcript": "ENST00000573614.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 650,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573614.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "n.*1635C>A",
"hgvs_p": null,
"transcript": "ENST00000575334.5",
"protein_id": "ENSP00000458607.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575334.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000575636.5",
"protein_id": "ENSP00000458914.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575636.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*135C>A",
"hgvs_p": null,
"transcript": "ENST00000571178.1",
"protein_id": "ENSP00000460434.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 353,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000571986.5",
"protein_id": "ENSP00000459802.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571986.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "n.*1635C>A",
"hgvs_p": null,
"transcript": "ENST00000575334.5",
"protein_id": "ENSP00000458607.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575334.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000575636.5",
"protein_id": "ENSP00000458914.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575636.5"
}
],
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"dbsnp": "rs11989",
"frequency_reference_population": 0.061830837,
"hom_count_reference_population": 4125,
"allele_count_reference_population": 99723,
"gnomad_exomes_af": 0.0584686,
"gnomad_genomes_af": 0.0940759,
"gnomad_exomes_ac": 85396,
"gnomad_genomes_ac": 14327,
"gnomad_exomes_homalt": 3204,
"gnomad_genomes_homalt": 921,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014361143112182617,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.96,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001201479.2",
"gene_symbol": "CORO7-PAM16",
"hgnc_id": 44424,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3109C>A",
"hgvs_p": "p.Gln1037Lys"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016069.11",
"gene_symbol": "PAM16",
"hgnc_id": 29679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Gln114Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}