← 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: 22-40405147-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40405147&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40405147,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350039.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "NM_015705.6",
"protein_id": "NP_056520.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "ENST00000248929.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015705.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000248929.14",
"protein_id": "ENSP00000248929.8",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "NM_015705.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248929.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1719A>C",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1719A>C",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639722.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956266.1",
"protein_id": "ENSP00000626325.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 772,
"cds_start": 481,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956266.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "NM_001350039.2",
"protein_id": "NP_001336968.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 766,
"cds_start": 481,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350039.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851447.1",
"protein_id": "ENSP00000521506.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 766,
"cds_start": 481,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851447.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956259.1",
"protein_id": "ENSP00000626318.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 766,
"cds_start": 481,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956259.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851459.1",
"protein_id": "ENSP00000521518.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 765,
"cds_start": 481,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851459.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.478A>C",
"hgvs_p": "p.Lys160Gln",
"transcript": "ENST00000925009.1",
"protein_id": "ENSP00000595068.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 765,
"cds_start": 478,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925009.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.478A>C",
"hgvs_p": "p.Lys160Gln",
"transcript": "ENST00000956267.1",
"protein_id": "ENSP00000626326.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 765,
"cds_start": 478,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956267.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956262.1",
"protein_id": "ENSP00000626321.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 757,
"cds_start": 481,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956262.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "NM_001350040.2",
"protein_id": "NP_001336969.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 756,
"cds_start": 481,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350040.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956261.1",
"protein_id": "ENSP00000626320.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 756,
"cds_start": 481,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956261.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851453.1",
"protein_id": "ENSP00000521512.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 753,
"cds_start": 481,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851453.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851451.1",
"protein_id": "ENSP00000521510.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851451.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851461.1",
"protein_id": "ENSP00000521520.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851461.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851462.1",
"protein_id": "ENSP00000521521.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851462.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956258.1",
"protein_id": "ENSP00000626317.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 749,
"cds_start": 481,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956258.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.478A>C",
"hgvs_p": "p.Lys160Gln",
"transcript": "ENST00000851448.1",
"protein_id": "ENSP00000521507.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 748,
"cds_start": 478,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851448.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.478A>C",
"hgvs_p": "p.Lys160Gln",
"transcript": "ENST00000851454.1",
"protein_id": "ENSP00000521513.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 748,
"cds_start": 478,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851454.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956265.1",
"protein_id": "ENSP00000626324.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 748,
"cds_start": 481,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956265.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851450.1",
"protein_id": "ENSP00000521509.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 747,
"cds_start": 481,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851450.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851458.1",
"protein_id": "ENSP00000521517.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 746,
"cds_start": 481,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851458.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.478A>C",
"hgvs_p": "p.Lys160Gln",
"transcript": "ENST00000925007.1",
"protein_id": "ENSP00000595066.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 746,
"cds_start": 478,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925007.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000956260.1",
"protein_id": "ENSP00000626319.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 746,
"cds_start": 481,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956260.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "NM_001350041.2",
"protein_id": "NP_001336970.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 739,
"cds_start": 481,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350041.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851455.1",
"protein_id": "ENSP00000521514.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 739,
"cds_start": 481,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851455.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851457.1",
"protein_id": "ENSP00000521516.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 739,
"cds_start": 481,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851457.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851460.1",
"protein_id": "ENSP00000521519.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 723,
"cds_start": 481,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851460.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Lys111Gln",
"transcript": "ENST00000956268.1",
"protein_id": "ENSP00000626327.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 716,
"cds_start": 331,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956268.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "NM_001350042.2",
"protein_id": "NP_001336971.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 703,
"cds_start": 292,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350042.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.280A>C",
"hgvs_p": "p.Lys94Gln",
"transcript": "NM_001350043.2",
"protein_id": "NP_001336972.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 699,
"cds_start": 280,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350043.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Lys111Gln",
"transcript": "ENST00000851452.1",
"protein_id": "ENSP00000521511.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 699,
"cds_start": 331,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851452.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000925006.1",
"protein_id": "ENSP00000595065.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 698,
"cds_start": 481,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925006.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000925008.1",
"protein_id": "ENSP00000595067.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 697,
"cds_start": 481,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925008.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "NM_001350044.2",
"protein_id": "NP_001336973.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 686,
"cds_start": 292,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350044.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "NM_001350045.2",
"protein_id": "NP_001336974.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 686,
"cds_start": 292,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350045.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.280A>C",
"hgvs_p": "p.Lys94Gln",
"transcript": "NM_001350046.2",
"protein_id": "NP_001336975.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 682,
"cds_start": 280,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350046.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln",
"transcript": "ENST00000851456.1",
"protein_id": "ENSP00000521515.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 680,
"cds_start": 481,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851456.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.280A>C",
"hgvs_p": "p.Lys94Gln",
"transcript": "NM_001350047.2",
"protein_id": "NP_001336976.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 672,
"cds_start": 280,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350047.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "NM_001301849.2",
"protein_id": "NP_001288778.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 660,
"cds_start": 292,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301849.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.280A>C",
"hgvs_p": "p.Lys94Gln",
"transcript": "ENST00000457767.5",
"protein_id": "ENSP00000399249.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 252,
"cds_start": 280,
"cds_end": null,
"cds_length": 759,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457767.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "XM_047441336.1",
"protein_id": "XP_047297292.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 703,
"cds_start": 292,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441336.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "XM_047441337.1",
"protein_id": "XP_047297293.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 676,
"cds_start": 292,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-18A>C",
"hgvs_p": null,
"transcript": "NM_001350048.2",
"protein_id": "NP_001336977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350048.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-18A>C",
"hgvs_p": null,
"transcript": "XM_047441338.1",
"protein_id": "XP_047297294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.474+483A>C",
"hgvs_p": null,
"transcript": "ENST00000956263.1",
"protein_id": "ENSP00000626322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.474+483A>C",
"hgvs_p": null,
"transcript": "ENST00000851449.1",
"protein_id": "ENSP00000521508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.474+483A>C",
"hgvs_p": null,
"transcript": "ENST00000956264.1",
"protein_id": "ENSP00000626323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": null,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.474+483A>C",
"hgvs_p": null,
"transcript": "ENST00000956269.1",
"protein_id": "ENSP00000626328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956269.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.458A>C",
"hgvs_p": null,
"transcript": "ENST00000478085.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478085.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.642A>C",
"hgvs_p": null,
"transcript": "ENST00000485962.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.687A>C",
"hgvs_p": null,
"transcript": "NR_146412.2",
"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": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.604A>C",
"hgvs_p": null,
"transcript": "NR_146413.2",
"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": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146413.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.672A>C",
"hgvs_p": null,
"transcript": "NR_146414.2",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146414.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.651A>C",
"hgvs_p": null,
"transcript": "NR_146415.2",
"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": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146415.2"
}
],
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"dbsnp": null,
"frequency_reference_population": 0.000006586863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000658686,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7647101879119873,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.464,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.102,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350039.2",
"gene_symbol": "SGSM3",
"hgnc_id": 25228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.481A>C",
"hgvs_p": "p.Lys161Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639722.1",
"gene_symbol": "ENSG00000284431",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1719A>C",
"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
}