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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-155256395-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155256395&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155256395,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005698.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Ser",
"transcript": "NM_005698.4",
"protein_id": "NP_005689.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 347,
"cds_start": 922,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302631.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005698.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Ser",
"transcript": "ENST00000302631.8",
"protein_id": "ENSP00000307275.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 347,
"cds_start": 922,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005698.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302631.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "ENST00000355379.3",
"protein_id": "ENSP00000347540.3",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 321,
"cds_start": 844,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355379.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000880568.1",
"protein_id": "ENSP00000550627.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 353,
"cds_start": 940,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880568.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000880571.1",
"protein_id": "ENSP00000550630.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 350,
"cds_start": 931,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880571.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Gly303Ser",
"transcript": "ENST00000929053.1",
"protein_id": "ENSP00000599112.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 342,
"cds_start": 907,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929053.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"transcript": "ENST00000929051.1",
"protein_id": "ENSP00000599110.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 898,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929051.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Ser",
"transcript": "NM_001438464.1",
"protein_id": "NP_001425393.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 333,
"cds_start": 880,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438464.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Ser",
"transcript": "ENST00000714216.1",
"protein_id": "ENSP00000519499.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 333,
"cds_start": 880,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714216.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "ENST00000880569.1",
"protein_id": "ENSP00000550628.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 325,
"cds_start": 856,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880569.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Gly285Ser",
"transcript": "ENST00000929050.1",
"protein_id": "ENSP00000599109.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 324,
"cds_start": 853,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929050.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "NM_052837.3",
"protein_id": "NP_443069.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 321,
"cds_start": 844,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052837.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Ser",
"transcript": "NM_001438467.1",
"protein_id": "NP_001425396.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 307,
"cds_start": 802,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438467.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Ser",
"transcript": "ENST00000714220.1",
"protein_id": "ENSP00000519503.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 307,
"cds_start": 802,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714220.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Gly267Ser",
"transcript": "NM_001438468.1",
"protein_id": "NP_001425397.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 306,
"cds_start": 799,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438468.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Gly267Ser",
"transcript": "ENST00000880564.1",
"protein_id": "ENSP00000550623.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 306,
"cds_start": 799,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880564.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Gly261Ser",
"transcript": "ENST00000714213.1",
"protein_id": "ENSP00000519495.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 300,
"cds_start": 781,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714213.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Gly260Ser",
"transcript": "ENST00000880567.1",
"protein_id": "ENSP00000550626.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 299,
"cds_start": 778,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880567.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Ser",
"transcript": "ENST00000880572.1",
"protein_id": "ENSP00000550631.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 757,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880572.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Ser",
"transcript": "ENST00000945654.1",
"protein_id": "ENSP00000615713.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 286,
"cds_start": 739,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945654.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "NM_001438471.1",
"protein_id": "NP_001425400.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 280,
"cds_start": 721,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438471.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "ENST00000714219.1",
"protein_id": "ENSP00000519502.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 280,
"cds_start": 721,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714219.1"
},
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"gene_symbol": "SCAMP3",
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"hgvs_c": "n.*254G>A",
"hgvs_p": null,
"transcript": "ENST00000465312.6",
"protein_id": "ENSP00000519497.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465312.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.*254G>A",
"hgvs_p": null,
"transcript": "ENST00000714215.1",
"protein_id": "ENSP00000519498.1",
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"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": "ENST00000714215.1"
},
{
"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": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000303088",
"gene_hgnc_id": null,
"hgvs_c": "n.261+1587C>T",
"hgvs_p": null,
"transcript": "ENST00000791655.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000791655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000303088",
"gene_hgnc_id": null,
"hgvs_c": "n.225+1625C>T",
"hgvs_p": null,
"transcript": "ENST00000791656.1",
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"transcript_support_level": null,
"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": "ENST00000791656.1"
}
],
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"dbsnp": "rs367772504",
"frequency_reference_population": 0.000010600394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000082672,
"gnomad_genomes_af": 0.0000328528,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2860681414604187,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005698.4",
"gene_symbol": "SCAMP3",
"hgnc_id": 10565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000791655.1",
"gene_symbol": "ENSG00000303088",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+1587C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}