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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: 16-4340322-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4340322&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4340322,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001201479.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.375G>A",
"hgvs_p": "p.Thr125Thr",
"transcript": "NM_016069.11",
"protein_id": "NP_057153.8",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 125,
"cds_start": 375,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318059.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016069.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.375G>A",
"hgvs_p": "p.Thr125Thr",
"transcript": "ENST00000318059.8",
"protein_id": "ENSP00000315693.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 125,
"cds_start": 375,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016069.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318059.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "ENST00000572467.5",
"protein_id": "ENSP00000460885.1",
"transcript_support_level": 2,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.631G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000573236.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "NM_001201479.2",
"protein_id": "NP_001188408.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1048,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201479.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.483G>A",
"hgvs_p": "p.Thr161Thr",
"transcript": "ENST00000911836.1",
"protein_id": "ENSP00000581895.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 161,
"cds_start": 483,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911836.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.435G>A",
"hgvs_p": "p.Thr145Thr",
"transcript": "ENST00000571941.5",
"protein_id": "ENSP00000460708.1",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 145,
"cds_start": 435,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571941.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.435G>A",
"hgvs_p": "p.Thr145Thr",
"transcript": "ENST00000573553.5",
"protein_id": "ENSP00000459955.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 145,
"cds_start": 435,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573553.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.411G>A",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000575848.5",
"protein_id": "ENSP00000458412.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 137,
"cds_start": 411,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575848.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.402G>A",
"hgvs_p": "p.Thr134Thr",
"transcript": "ENST00000911833.1",
"protein_id": "ENSP00000581892.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 134,
"cds_start": 402,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911833.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.375G>A",
"hgvs_p": "p.Thr125Thr",
"transcript": "ENST00000576217.1",
"protein_id": "ENSP00000461047.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 125,
"cds_start": 375,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576217.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.369G>A",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000911828.1",
"protein_id": "ENSP00000581887.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 123,
"cds_start": 369,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911828.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.360G>A",
"hgvs_p": "p.Thr120Thr",
"transcript": "ENST00000911831.1",
"protein_id": "ENSP00000581890.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 120,
"cds_start": 360,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911831.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.354G>A",
"hgvs_p": "p.Thr118Thr",
"transcript": "ENST00000911830.1",
"protein_id": "ENSP00000581889.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 118,
"cds_start": 354,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911830.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.336G>A",
"hgvs_p": "p.Thr112Thr",
"transcript": "ENST00000911834.1",
"protein_id": "ENSP00000581893.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 112,
"cds_start": 336,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911834.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.330G>A",
"hgvs_p": "p.Thr110Thr",
"transcript": "ENST00000911832.1",
"protein_id": "ENSP00000581891.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 110,
"cds_start": 330,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911832.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.309G>A",
"hgvs_p": "p.Thr103Thr",
"transcript": "ENST00000911829.1",
"protein_id": "ENSP00000581888.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 103,
"cds_start": 309,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911829.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.153G>A",
"hgvs_p": "p.Thr51Thr",
"transcript": "ENST00000911835.1",
"protein_id": "ENSP00000581894.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 51,
"cds_start": 153,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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+598G>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": null,
"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.*170G>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": null,
"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.*268G>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": null,
"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.508G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573450.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
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"hgvs_c": "n.579G>A",
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"transcript": "ENST00000573614.5",
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"transcript_support_level": 5,
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"cds_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000573614.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
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"exon_count": 33,
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"gene_symbol": "CORO7-PAM16",
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"hgvs_c": "n.*1670G>A",
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"transcript": "ENST00000575334.5",
"protein_id": "ENSP00000458607.1",
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"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575334.5"
},
{
"aa_ref": null,
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"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.*268G>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": null,
"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.*170G>A",
"hgvs_p": null,
"transcript": "ENST00000571178.1",
"protein_id": "ENSP00000460434.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571178.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*268G>A",
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"transcript": "ENST00000571986.5",
"protein_id": "ENSP00000459802.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571986.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
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"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "n.*1670G>A",
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"transcript": "ENST00000575334.5",
"protein_id": "ENSP00000458607.1",
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575334.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAM16",
"gene_hgnc_id": 29679,
"hgvs_c": "n.*268G>A",
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"transcript": "ENST00000575636.5",
"protein_id": "ENSP00000458914.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575636.5"
}
],
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"dbsnp": "rs368337855",
"frequency_reference_population": 0.000017365785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.00000958753,
"gnomad_genomes_af": 0.0000920229,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.933,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001201479.2",
"gene_symbol": "CORO7-PAM16",
"hgnc_id": 44424,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3144G>A",
"hgvs_p": "p.Thr1048Thr"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_016069.11",
"gene_symbol": "PAM16",
"hgnc_id": 29679,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Thr125Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}