← 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: 2-216414745-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216414745&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216414745,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014140.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "NM_014140.4",
"protein_id": "NP_054859.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357276.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014140.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000357276.9",
"protein_id": "ENSP00000349823.4",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014140.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357276.9"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000358207.9",
"protein_id": "ENSP00000350940.5",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358207.9"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000932386.1",
"protein_id": "ENSP00000602445.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 998,
"cds_start": 41,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932386.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000860357.1",
"protein_id": "ENSP00000530416.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 966,
"cds_start": 41,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860357.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000956025.1",
"protein_id": "ENSP00000626084.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 966,
"cds_start": 41,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956025.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000932385.1",
"protein_id": "ENSP00000602444.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 960,
"cds_start": 41,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932385.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "NM_001127207.2",
"protein_id": "NP_001120679.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127207.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000425815.6",
"protein_id": "ENSP00000394410.2",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425815.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000430374.6",
"protein_id": "ENSP00000405077.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430374.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000444508.6",
"protein_id": "ENSP00000398969.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444508.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000860358.1",
"protein_id": "ENSP00000530417.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860358.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000860359.1",
"protein_id": "ENSP00000530418.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860359.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000956024.1",
"protein_id": "ENSP00000626083.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 954,
"cds_start": 41,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956024.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000860356.1",
"protein_id": "ENSP00000530415.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 896,
"cds_start": 41,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860356.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000932387.1",
"protein_id": "ENSP00000602446.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 896,
"cds_start": 41,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932387.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000697899.1",
"protein_id": "ENSP00000513470.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 876,
"cds_start": 41,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697899.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000697906.1",
"protein_id": "ENSP00000513475.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 876,
"cds_start": 41,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697906.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000932384.1",
"protein_id": "ENSP00000602443.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 876,
"cds_start": 41,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932384.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000860355.1",
"protein_id": "ENSP00000530414.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 859,
"cds_start": 41,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860355.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000932388.1",
"protein_id": "ENSP00000602447.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 859,
"cds_start": 41,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932388.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000956026.1",
"protein_id": "ENSP00000626085.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 745,
"cds_start": 41,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956026.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val",
"transcript": "ENST00000434435.1",
"protein_id": "ENSP00000402967.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 91,
"cds_start": 41,
"cds_end": null,
"cds_length": 277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.402A>T",
"hgvs_p": null,
"transcript": "ENST00000697898.1",
"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": "retained_intron",
"feature": "ENST00000697898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.317A>T",
"hgvs_p": null,
"transcript": "ENST00000697900.1",
"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": "retained_intron",
"feature": "ENST00000697900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000697901.1",
"protein_id": "ENSP00000513471.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.273A>T",
"hgvs_p": null,
"transcript": "ENST00000697902.1",
"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": "retained_intron",
"feature": "ENST00000697902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000697903.1",
"protein_id": "ENSP00000513472.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000697904.1",
"protein_id": "ENSP00000513473.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000697905.1",
"protein_id": "ENSP00000513474.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000697907.1",
"protein_id": "ENSP00000513476.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000697907.1"
}
],
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"dbsnp": "rs1693548931",
"frequency_reference_population": 0.0000012390867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41867804527282715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.4683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.596,
"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": 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_014140.4",
"gene_symbol": "SMARCAL1",
"hgnc_id": 11102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.41A>T",
"hgvs_p": "p.Glu14Val"
}
],
"clinvar_disease": "Inborn genetic diseases,Schimke immuno-osseous dysplasia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Schimke immuno-osseous dysplasia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}