← 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: 1-155257328-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155257328&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155257328,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005698.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "NM_005698.4",
"protein_id": "NP_005689.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 347,
"cds_start": 736,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "ENST00000302631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "ENST00000302631.8",
"protein_id": "ENSP00000307275.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 347,
"cds_start": 736,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "NM_005698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Phe",
"transcript": "ENST00000355379.3",
"protein_id": "ENSP00000347540.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 321,
"cds_start": 658,
"cds_end": null,
"cds_length": 966,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "NM_001438464.1",
"protein_id": "NP_001425393.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 333,
"cds_start": 694,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000714216.1",
"protein_id": "ENSP00000519499.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 333,
"cds_start": 694,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Phe",
"transcript": "NM_052837.3",
"protein_id": "NP_443069.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 321,
"cds_start": 658,
"cds_end": null,
"cds_length": 966,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "NM_001438465.1",
"protein_id": "NP_001425394.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 310,
"cds_start": 736,
"cds_end": null,
"cds_length": 933,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "ENST00000714218.1",
"protein_id": "ENSP00000519501.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 310,
"cds_start": 736,
"cds_end": null,
"cds_length": 933,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "NM_001438466.1",
"protein_id": "NP_001425395.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 309,
"cds_start": 736,
"cds_end": null,
"cds_length": 930,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Leu206Phe",
"transcript": "NM_001438467.1",
"protein_id": "NP_001425396.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 307,
"cds_start": 616,
"cds_end": null,
"cds_length": 924,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Leu206Phe",
"transcript": "ENST00000714220.1",
"protein_id": "ENSP00000519503.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 307,
"cds_start": 616,
"cds_end": null,
"cds_length": 924,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Phe",
"transcript": "NM_001438468.1",
"protein_id": "NP_001425397.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 306,
"cds_start": 613,
"cds_end": null,
"cds_length": 921,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000714213.1",
"protein_id": "ENSP00000519495.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "NM_001438469.1",
"protein_id": "NP_001425398.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 287,
"cds_start": 736,
"cds_end": null,
"cds_length": 864,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "ENST00000472397.6",
"protein_id": "ENSP00000519504.1",
"transcript_support_level": 3,
"aa_start": 246,
"aa_end": null,
"aa_length": 287,
"cds_start": 736,
"cds_end": null,
"cds_length": 864,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Phe",
"transcript": "NM_001438470.1",
"protein_id": "NP_001425399.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 284,
"cds_start": 658,
"cds_end": null,
"cds_length": 855,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Phe",
"transcript": "ENST00000714214.1",
"protein_id": "ENSP00000519496.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 284,
"cds_start": 658,
"cds_end": null,
"cds_length": 855,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "NM_001438471.1",
"protein_id": "NP_001425400.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 280,
"cds_start": 535,
"cds_end": null,
"cds_length": 843,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "ENST00000714219.1",
"protein_id": "ENSP00000519502.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 280,
"cds_start": 535,
"cds_end": null,
"cds_length": 843,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Leu104Phe",
"transcript": "NM_001438473.1",
"protein_id": "NP_001425402.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 205,
"cds_start": 310,
"cds_end": null,
"cds_length": 618,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Leu165Phe",
"transcript": "XM_047418254.1",
"protein_id": "XP_047274210.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 266,
"cds_start": 493,
"cds_end": null,
"cds_length": 801,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.684C>T",
"hgvs_p": "p.Cys228Cys",
"transcript": "NM_001438472.1",
"protein_id": "NP_001425401.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 274,
"cds_start": 684,
"cds_end": null,
"cds_length": 825,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1493,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.777C>T",
"hgvs_p": null,
"transcript": "ENST00000462151.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 819,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.*68C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.671C>T",
"hgvs_p": null,
"transcript": "ENST00000490999.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000714215.1",
"protein_id": "ENSP00000519498.1",
"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": 1368,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.933C>T",
"hgvs_p": null,
"transcript": "ENST00000714221.1",
"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": 1524,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.*68C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000714215.1",
"protein_id": "ENSP00000519498.1",
"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": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.518-909C>T",
"hgvs_p": null,
"transcript": "ENST00000714217.1",
"protein_id": "ENSP00000519500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.518-537C>T",
"hgvs_p": null,
"transcript": "NM_001438474.1",
"protein_id": "NP_001425403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.518-537C>T",
"hgvs_p": null,
"transcript": "ENST00000478737.6",
"protein_id": "ENSP00000519482.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.440-537C>T",
"hgvs_p": null,
"transcript": "NM_001438475.1",
"protein_id": "NP_001425404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303088",
"gene_hgnc_id": null,
"hgvs_c": "n.261+2520G>A",
"hgvs_p": null,
"transcript": "ENST00000791655.1",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303088",
"gene_hgnc_id": null,
"hgvs_c": "n.225+2558G>A",
"hgvs_p": null,
"transcript": "ENST00000791656.1",
"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": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"dbsnp": "rs1430915875",
"frequency_reference_population": 0.000002478373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136821,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0427069365978241,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.331,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005698.4",
"gene_symbol": "SCAMP3",
"hgnc_id": 10565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000791655.1",
"gene_symbol": "ENSG00000303088",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+2520G>A",
"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
}