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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: 19-51529892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51529892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51529892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001245.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_001245.7",
"protein_id": "NP_001236.4",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 453,
"cds_start": 844,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425629.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001245.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000425629.8",
"protein_id": "ENSP00000401502.2",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 453,
"cds_start": 844,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001245.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425629.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000343300.8",
"protein_id": "ENSP00000345907.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343300.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000391797.3",
"protein_id": "ENSP00000375674.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 342,
"cds_start": 811,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391797.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "n.999G>A",
"hgvs_p": null,
"transcript": "ENST00000489837.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "n.891G>A",
"hgvs_p": null,
"transcript": "ENST00000496422.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496422.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "NM_198845.6",
"protein_id": "NP_942142.3",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 437,
"cds_start": 796,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198845.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "ENST00000346477.7",
"protein_id": "ENSP00000344064.4",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 437,
"cds_start": 796,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346477.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Ala230Thr",
"transcript": "NM_001177547.3",
"protein_id": "NP_001171018.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 401,
"cds_start": 688,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177547.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Ala230Thr",
"transcript": "ENST00000436458.5",
"protein_id": "ENSP00000410679.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 401,
"cds_start": 688,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436458.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "NM_001177548.3",
"protein_id": "NP_001171019.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 389,
"cds_start": 877,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177548.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "ENST00000359982.8",
"protein_id": "ENSP00000353071.4",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 389,
"cds_start": 877,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359982.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_198846.6",
"protein_id": "NP_942143.3",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198846.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "NM_001177549.3",
"protein_id": "NP_001171020.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 342,
"cds_start": 811,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177549.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "XM_011527533.4",
"protein_id": "XP_011525835.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 464,
"cds_start": 877,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527533.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "XM_011527535.4",
"protein_id": "XP_011525837.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 453,
"cds_start": 844,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527535.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "XM_047439734.1",
"protein_id": "XP_047295690.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 442,
"cds_start": 811,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439734.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Ala257Thr",
"transcript": "XM_011527536.4",
"protein_id": "XP_011525838.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 428,
"cds_start": 769,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527536.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Ala246Thr",
"transcript": "XM_011527537.3",
"protein_id": "XP_011525839.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 417,
"cds_start": 736,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527537.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "XM_011527538.4",
"protein_id": "XP_011525840.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 364,
"cds_start": 877,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527538.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "XM_017027511.3",
"protein_id": "XP_016883000.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 362,
"cds_start": 877,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027511.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "XM_047439735.1",
"protein_id": "XP_047295691.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 348,
"cds_start": 877,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439735.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "XM_047439736.1",
"protein_id": "XP_047295692.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 337,
"cds_start": 796,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "c.706+789G>A",
"hgvs_p": null,
"transcript": "XM_011527539.4",
"protein_id": "XP_011525841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527539.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"hgvs_c": "n.899G>A",
"hgvs_p": null,
"transcript": "XR_007067048.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067048.1"
}
],
"gene_symbol": "SIGLEC6",
"gene_hgnc_id": 10875,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49058637022972107,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.412,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.946,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001245.7",
"gene_symbol": "SIGLEC6",
"hgnc_id": 10875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr"
}
],
"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
}