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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: 19-51411233-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51411233&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51411233,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033130.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Gln654Glu",
"transcript": "NM_033130.5",
"protein_id": "NP_149121.2",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 697,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": "ENST00000339313.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033130.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Gln654Glu",
"transcript": "ENST00000339313.10",
"protein_id": "ENSP00000345243.4",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 697,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": "NM_033130.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339313.10"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Gln596Glu",
"transcript": "ENST00000439889.6",
"protein_id": "ENSP00000389132.2",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 639,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439889.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1675C>G",
"hgvs_p": "p.Gln559Glu",
"transcript": "ENST00000353836.9",
"protein_id": "ENSP00000342389.5",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 602,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353836.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1501C>G",
"hgvs_p": "p.Gln501Glu",
"transcript": "ENST00000441969.7",
"protein_id": "ENSP00000408387.2",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 544,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441969.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1816C>G",
"hgvs_p": "p.Gln606Glu",
"transcript": "ENST00000961808.1",
"protein_id": "ENSP00000631867.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 649,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961808.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1786C>G",
"hgvs_p": "p.Gln596Glu",
"transcript": "NM_001171156.2",
"protein_id": "NP_001164627.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 639,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171156.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1690C>G",
"hgvs_p": "p.Gln564Glu",
"transcript": "ENST00000961807.1",
"protein_id": "ENSP00000631866.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 607,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961807.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1675C>G",
"hgvs_p": "p.Gln559Glu",
"transcript": "NM_001171157.2",
"protein_id": "NP_001164628.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 602,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171157.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Gln511Glu",
"transcript": "NM_001171158.2",
"protein_id": "NP_001164629.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 554,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171158.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Gln511Glu",
"transcript": "ENST00000436984.6",
"protein_id": "ENSP00000414324.2",
"transcript_support_level": 2,
"aa_start": 511,
"aa_end": null,
"aa_length": 554,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436984.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1501C>G",
"hgvs_p": "p.Gln501Glu",
"transcript": "NM_001171159.2",
"protein_id": "NP_001164630.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 544,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171159.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1405C>G",
"hgvs_p": "p.Gln469Glu",
"transcript": "NM_001322105.2",
"protein_id": "NP_001309034.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 512,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322105.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1405C>G",
"hgvs_p": "p.Gln469Glu",
"transcript": "ENST00000525998.5",
"protein_id": "ENSP00000431444.1",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 512,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525998.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1261C>G",
"hgvs_p": "p.Gln421Glu",
"transcript": "ENST00000961809.1",
"protein_id": "ENSP00000631868.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 464,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961809.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Gln411Glu",
"transcript": "NM_001171161.2",
"protein_id": "NP_001164632.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 454,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171161.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Gln411Glu",
"transcript": "ENST00000442846.7",
"protein_id": "ENSP00000395475.2",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 454,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442846.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Gln621Glu",
"transcript": "XM_047439600.1",
"protein_id": "XP_047295556.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 664,
"cds_start": 1861,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439600.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1816C>G",
"hgvs_p": "p.Gln606Glu",
"transcript": "XM_047439604.1",
"protein_id": "XP_047295560.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 649,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439604.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1717C>G",
"hgvs_p": "p.Gln573Glu",
"transcript": "XM_047439601.1",
"protein_id": "XP_047295557.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 616,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439601.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1690C>G",
"hgvs_p": "p.Gln564Glu",
"transcript": "XM_005259366.6",
"protein_id": "XP_005259423.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 607,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259366.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.Gln563Glu",
"transcript": "XM_047439602.1",
"protein_id": "XP_047295558.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 606,
"cds_start": 1687,
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{
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{
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},
{
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],
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"transcript": "XM_047439605.1",
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"biotype": "protein_coding",
"feature": "XM_047439605.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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{
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],
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"gene_symbol": "LIM2-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000738637.1"
},
{
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"intron_variant"
],
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"gene_symbol": "LIM2-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000738638.1"
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],
"gene_symbol": "SIGLEC10",
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"dbsnp": "rs1456097107",
"frequency_reference_population": 0.000003717297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342022,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12701734900474548,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.333,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033130.5",
"gene_symbol": "SIGLEC10",
"hgnc_id": 15620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Gln654Glu"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000738637.1",
"gene_symbol": "LIM2-AS1",
"hgnc_id": 56004,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.341-177G>C",
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}
],
"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
}