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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: 19-51265837-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51265837&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51265837,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000601727.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "NM_001385465.1",
"protein_id": "NP_001372394.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": "ENST00000601727.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "ENST00000601727.6",
"protein_id": "ENSP00000469601.2",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": "NM_001385465.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "ENST00000614422.4",
"protein_id": "ENSP00000480286.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Ala28Glu",
"transcript": "ENST00000597824.1",
"protein_id": "ENSP00000472702.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 103,
"cds_start": 83,
"cds_end": null,
"cds_length": 312,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "n.750C>A",
"hgvs_p": null,
"transcript": "ENST00000593968.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "NM_001385466.1",
"protein_id": "NP_001372395.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "NM_173635.3",
"protein_id": "NP_775906.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "ENST00000316401.11",
"protein_id": "ENSP00000321249.6",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "ENST00000597610.5",
"protein_id": "ENSP00000469589.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 139,
"cds_start": 365,
"cds_end": null,
"cds_length": 421,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Ala28Glu",
"transcript": "NM_001308437.2",
"protein_id": "NP_001295366.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 103,
"cds_start": 83,
"cds_end": null,
"cds_length": 312,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Ala28Glu",
"transcript": "NM_001385467.1",
"protein_id": "NP_001372396.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 103,
"cds_start": 83,
"cds_end": null,
"cds_length": 312,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu",
"transcript": "XM_011526821.2",
"protein_id": "XP_011525123.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"cds_end": null,
"cds_length": 594,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "n.748C>A",
"hgvs_p": null,
"transcript": "NR_102324.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLECL1",
"gene_hgnc_id": 26856,
"hgvs_c": "n.527C>A",
"hgvs_p": null,
"transcript": "NR_169627.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.243+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000597569.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.243+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000716537.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.243+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000716538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.245+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000716539.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.231+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000819409.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.253+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000819410.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 851,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.224+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000819411.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.243+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000819412.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.231+4326G>T",
"hgvs_p": null,
"transcript": "ENST00000819418.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000268595",
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"cds_start": -4,
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"cdna_length": 905,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "SIGLECL1",
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"transcript": "NR_169626.1",
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},
{
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"strand": false,
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],
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"exon_count": 3,
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"gene_symbol": "LOC107985327",
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"transcript": "XR_001753982.2",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "LOC107985327",
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"hgvs_c": "n.232-1660G>T",
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"cdna_length": 320,
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "LOC107985327",
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"feature": null
}
],
"gene_symbol": "SIGLECL1",
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"dbsnp": "rs145455195",
"frequency_reference_population": 0.00004150956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000410428,
"gnomad_genomes_af": 0.0000459927,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.110455721616745,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.7294,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.621,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000601727.6",
"gene_symbol": "SIGLECL1",
"hgnc_id": 26856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Glu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000597569.1",
"gene_symbol": "ENSG00000268595",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.243+4326G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_001753982.2",
"gene_symbol": "LOC107985327",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.231+4326G>T",
"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
}