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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: 22-38740324-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38740324&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38740324,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001394427.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Ser433Ser",
"transcript": "NM_015374.3",
"protein_id": "NP_056189.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 717,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "ENST00000689035.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015374.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Ser433Ser",
"transcript": "ENST00000689035.1",
"protein_id": "ENSP00000508608.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 717,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "NM_015374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689035.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1362C>T",
"hgvs_p": "p.Ser454Ser",
"transcript": "ENST00000405018.5",
"protein_id": "ENSP00000385616.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 738,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405018.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Ser433Ser",
"transcript": "ENST00000405510.5",
"protein_id": "ENSP00000385740.1",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 717,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405510.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.Ser465Ser",
"transcript": "ENST00000956730.1",
"protein_id": "ENSP00000626789.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 749,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956730.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.Ser465Ser",
"transcript": "ENST00000956735.1",
"protein_id": "ENSP00000626794.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 749,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956735.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.Ser465Ser",
"transcript": "ENST00000956751.1",
"protein_id": "ENSP00000626810.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 749,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956751.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Ser464Ser",
"transcript": "NM_001394427.1",
"protein_id": "NP_001381356.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 748,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394427.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Ser464Ser",
"transcript": "ENST00000956736.1",
"protein_id": "ENSP00000626795.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 748,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956736.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Ser455Ser",
"transcript": "ENST00000956744.1",
"protein_id": "ENSP00000626803.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 739,
"cds_start": 1365,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956744.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1362C>T",
"hgvs_p": "p.Ser454Ser",
"transcript": "NM_001199579.2",
"protein_id": "NP_001186508.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 738,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199579.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1362C>T",
"hgvs_p": "p.Ser454Ser",
"transcript": "NM_001394428.1",
"protein_id": "NP_001381357.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 738,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394428.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1362C>T",
"hgvs_p": "p.Ser454Ser",
"transcript": "ENST00000956739.1",
"protein_id": "ENSP00000626798.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 738,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956739.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Ser453Ser",
"transcript": "ENST00000870844.1",
"protein_id": "ENSP00000540903.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 737,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870844.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Ser453Ser",
"transcript": "ENST00000870850.1",
"protein_id": "ENSP00000540909.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 737,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870850.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Ser453Ser",
"transcript": "ENST00000956749.1",
"protein_id": "ENSP00000626808.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 737,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956749.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ser448Ser",
"transcript": "NM_001394429.1",
"protein_id": "NP_001381358.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 732,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394429.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ser448Ser",
"transcript": "NM_001394430.1",
"protein_id": "NP_001381359.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 732,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394430.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ser448Ser",
"transcript": "ENST00000956732.1",
"protein_id": "ENSP00000626791.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 732,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956732.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Ser448Ser",
"transcript": "ENST00000956737.1",
"protein_id": "ENSP00000626796.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 732,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956737.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Ser433Ser",
"transcript": "NM_001394431.1",
"protein_id": "NP_001381360.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 725,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394431.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Ser433Ser",
"transcript": "ENST00000455125.2",
"protein_id": "ENSP00000390154.2",
"transcript_support_level": 2,
"aa_start": 433,
"aa_end": null,
"aa_length": 725,
"cds_start": 1299,
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "SUN2",
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"hgvs_c": "n.509C>T",
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"transcript": "ENST00000464202.1",
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 541,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464202.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 5,
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"gene_symbol": "SUN2",
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"hgvs_c": "n.986C>T",
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"transcript": "ENST00000469086.5",
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"cdna_length": 1351,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469086.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "SUN2",
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"hgvs_c": "n.487C>T",
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"transcript": "ENST00000477262.5",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
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"cdna_length": 914,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477262.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000225450",
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"hgvs_c": "n.165+1157G>A",
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"transcript": "ENST00000416406.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000416406.1"
}
],
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"dbsnp": "rs1442161052",
"frequency_reference_population": 0.000013140777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.291,
"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": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001394427.1",
"gene_symbol": "SUN2",
"hgnc_id": 14210,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Ser464Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_011530537.3",
"gene_symbol": "GTPBP1",
"hgnc_id": 4669,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2325G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000416406.1",
"gene_symbol": "ENSG00000225450",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.165+1157G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}