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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: 5-81636601-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=81636601&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 81636601,
"ref": "G",
"alt": "GT",
"effect": "frameshift_variant",
"transcript": "NM_001394350.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001256732.3",
"protein_id": "NP_001243661.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 369,
"cds_start": 152,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000615665.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256732.3"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000615665.5",
"protein_id": "ENSP00000483921.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 369,
"cds_start": 152,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615665.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000320672.9",
"protein_id": "ENSP00000322977.4",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 361,
"cds_start": 152,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320672.9"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000514493.5",
"protein_id": "ENSP00000426183.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 331,
"cds_start": 152,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514493.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001394350.1",
"protein_id": "NP_001381279.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 381,
"cds_start": 152,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394350.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400340.1",
"protein_id": "NP_001387269.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 369,
"cds_start": 152,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400340.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400341.1",
"protein_id": "NP_001387270.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 365,
"cds_start": 152,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400341.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400342.1",
"protein_id": "NP_001387271.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 361,
"cds_start": 152,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400342.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_012446.5",
"protein_id": "NP_036578.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 361,
"cds_start": 152,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012446.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400366.1",
"protein_id": "NP_001387295.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 360,
"cds_start": 152,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400366.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000855148.1",
"protein_id": "ENSP00000525207.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 360,
"cds_start": 152,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855148.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000855152.1",
"protein_id": "ENSP00000525211.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 360,
"cds_start": 152,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855152.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.140dupA",
"hgvs_p": "p.Asn47fs",
"transcript": "NM_001394351.1",
"protein_id": "NP_001381280.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 357,
"cds_start": 140,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394351.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400343.1",
"protein_id": "NP_001387272.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 357,
"cds_start": 152,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400343.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000965586.1",
"protein_id": "ENSP00000635645.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 357,
"cds_start": 152,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965586.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400344.1",
"protein_id": "NP_001387273.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 354,
"cds_start": 152,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400344.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000965583.1",
"protein_id": "ENSP00000635642.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 351,
"cds_start": 152,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965583.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400345.1",
"protein_id": "NP_001387274.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 349,
"cds_start": 152,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400345.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001400369.1",
"protein_id": "NP_001387298.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 349,
"cds_start": 152,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400369.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000965581.1",
"protein_id": "ENSP00000635640.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 349,
"cds_start": 152,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965581.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001256733.3",
"protein_id": "NP_001243662.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 341,
"cds_start": 152,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256733.3"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "ENST00000505980.5",
"protein_id": "ENSP00000423969.1",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 341,
"cds_start": 152,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505980.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000507472.5"
},
{
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"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "NR_174530.1"
},
{
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],
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"intron_rank": 2,
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"biotype": "pseudogene",
"feature": "NR_174531.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "SSBP2",
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"feature": "NR_174533.1"
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
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"transcript": "NR_174539.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "NR_174539.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "SSBP2",
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"biotype": "pseudogene",
"feature": "NR_174553.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "n.190+13665dupA",
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"transcript": "NR_174559.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174559.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"hgvs_c": "n.190+13665dupA",
"hgvs_p": null,
"transcript": "NR_174560.1",
"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": "NR_174560.1"
}
],
"gene_symbol": "SSBP2",
"gene_hgnc_id": 15831,
"dbsnp": "rs1057518330",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.91,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394350.1",
"gene_symbol": "SSBP2",
"hgnc_id": 15831,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs"
}
],
"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
}