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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: 1-145892806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145892806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 145892806,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003637.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3496G>A",
"hgvs_p": "p.Glu1166Lys",
"transcript": "NM_003637.5",
"protein_id": "NP_003628.2",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369304.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003637.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3496G>A",
"hgvs_p": "p.Glu1166Lys",
"transcript": "ENST00000369304.8",
"protein_id": "ENSP00000358310.3",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003637.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369304.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Glu1023Lys",
"transcript": "ENST00000539363.2",
"protein_id": "ENSP00000439894.1",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539363.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3403G>A",
"hgvs_p": "p.Glu1135Lys",
"transcript": "ENST00000889441.1",
"protein_id": "ENSP00000559500.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3403,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889441.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3382G>A",
"hgvs_p": "p.Glu1128Lys",
"transcript": "ENST00000889439.1",
"protein_id": "ENSP00000559498.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3382,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889439.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3382G>A",
"hgvs_p": "p.Glu1128Lys",
"transcript": "ENST00000965598.1",
"protein_id": "ENSP00000635657.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3382,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965598.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3253G>A",
"hgvs_p": "p.Glu1085Lys",
"transcript": "ENST00000889440.1",
"protein_id": "ENSP00000559499.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889440.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3103G>A",
"hgvs_p": "p.Glu1035Lys",
"transcript": "NM_001303040.2",
"protein_id": "NP_001289969.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303040.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Glu1023Lys",
"transcript": "NM_001303041.2",
"protein_id": "NP_001289970.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303041.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3538G>A",
"hgvs_p": "p.Glu1180Lys",
"transcript": "XM_017002622.1",
"protein_id": "XP_016858111.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3538,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002622.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Glu1179Lys",
"transcript": "XM_017002623.1",
"protein_id": "XP_016858112.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002623.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3493G>A",
"hgvs_p": "p.Glu1165Lys",
"transcript": "XM_047432895.1",
"protein_id": "XP_047288851.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432895.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3424G>A",
"hgvs_p": "p.Glu1142Lys",
"transcript": "XM_017002624.1",
"protein_id": "XP_016858113.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3424,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002624.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3424G>A",
"hgvs_p": "p.Glu1142Lys",
"transcript": "XM_017002625.1",
"protein_id": "XP_016858114.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3424,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002625.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3382G>A",
"hgvs_p": "p.Glu1128Lys",
"transcript": "XM_047432904.1",
"protein_id": "XP_047288860.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3382,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432904.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3382G>A",
"hgvs_p": "p.Glu1128Lys",
"transcript": "XM_047432906.1",
"protein_id": "XP_047288862.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3382,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432906.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3379G>A",
"hgvs_p": "p.Glu1127Lys",
"transcript": "XM_047432909.1",
"protein_id": "XP_047288865.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432909.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Glu1104Lys",
"transcript": "XM_047432910.1",
"protein_id": "XP_047288866.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432910.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Glu1104Lys",
"transcript": "XM_047432915.1",
"protein_id": "XP_047288871.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432915.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Glu1099Lys",
"transcript": "XM_017002626.1",
"protein_id": "XP_016858115.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002626.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Glu1090Lys",
"transcript": "XM_047432924.1",
"protein_id": "XP_047288880.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432924.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.3001G>A",
"hgvs_p": "p.Glu1001Lys",
"transcript": "XM_011510083.2",
"protein_id": "XP_011508385.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1002,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510083.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
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"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "XM_011510084.1",
"protein_id": "XP_011508386.1",
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"aa_start": 657,
"aa_end": null,
"aa_length": 658,
"cds_start": 1969,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510084.1"
},
{
"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": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000244619",
"gene_hgnc_id": 58407,
"hgvs_c": "n.208-364C>T",
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"transcript": "ENST00000777827.1",
"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": "ENST00000777827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244619",
"gene_hgnc_id": 58407,
"hgvs_c": "n.-41C>T",
"hgvs_p": null,
"transcript": "ENST00000415065.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415065.2"
}
],
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"dbsnp": "rs782186335",
"frequency_reference_population": 0.000018604213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000198571,
"gnomad_genomes_af": 0.00000657454,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.158265620470047,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.396,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_003637.5",
"gene_symbol": "ITGA10",
"hgnc_id": 6135,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3496G>A",
"hgvs_p": "p.Glu1166Lys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000777827.1",
"gene_symbol": "ENSG00000244619",
"hgnc_id": 58407,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-364C>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
}