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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: 8-19405867-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19405867&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19405867,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018371.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354483.2",
"protein_id": "NP_001341412.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000692225.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354483.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "ENST00000692225.2",
"protein_id": "ENSP00000509853.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354483.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692225.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "ENST00000332246.10",
"protein_id": "ENSP00000330805.6",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332246.10"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "ENST00000454498.6",
"protein_id": "ENSP00000411816.2",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454498.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "ENST00000522854.5",
"protein_id": "ENSP00000429809.1",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522854.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001130518.2",
"protein_id": "NP_001123990.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130518.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354475.2",
"protein_id": "NP_001341404.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354475.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354476.2",
"protein_id": "NP_001341405.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354476.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354477.2",
"protein_id": "NP_001341406.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354477.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354480.2",
"protein_id": "NP_001341409.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354480.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354481.2",
"protein_id": "NP_001341410.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354481.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354484.2",
"protein_id": "NP_001341413.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354484.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354485.2",
"protein_id": "NP_001341414.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354485.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354487.2",
"protein_id": "NP_001341416.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354487.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354488.2",
"protein_id": "NP_001341417.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354488.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354489.2",
"protein_id": "NP_001341418.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354489.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354490.2",
"protein_id": "NP_001341419.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354490.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354491.2",
"protein_id": "NP_001341420.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354491.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354492.2",
"protein_id": "NP_001341421.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354492.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354494.2",
"protein_id": "NP_001341423.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354494.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354495.2",
"protein_id": "NP_001341424.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354495.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His",
"transcript": "NM_001354496.2",
"protein_id": "NP_001341425.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1512,
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"biotype": "pseudogene",
"feature": "NR_148898.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
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"hgvs_c": "n.2282C>T",
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"transcript": "NR_148899.2",
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_148899.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
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"hgvs_c": "n.2182C>T",
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"transcript": "NR_148900.2",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148900.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "n.2428C>T",
"hgvs_p": null,
"transcript": "NR_148901.2",
"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_148901.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "n.2770C>T",
"hgvs_p": null,
"transcript": "NR_148902.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148902.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000397998.7",
"protein_id": "ENSP00000381084.3",
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"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000397998.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000695899.1",
"protein_id": "ENSP00000512249.1",
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"aa_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695899.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"hgvs_c": "n.*278C>T",
"hgvs_p": null,
"transcript": "ENST00000695900.1",
"protein_id": "ENSP00000512250.1",
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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": "ENST00000695900.1"
}
],
"gene_symbol": "CSGALNACT1",
"gene_hgnc_id": 24290,
"dbsnp": "rs572792017",
"frequency_reference_population": 0.0000681529,
"hom_count_reference_population": 1,
"allele_count_reference_population": 110,
"gnomad_exomes_af": 0.0000731931,
"gnomad_genomes_af": 0.0000197197,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"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": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.043,
"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_018371.5",
"gene_symbol": "CSGALNACT1",
"hgnc_id": 24290,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.His504His"
}
],
"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
}