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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: 3-50269320-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50269320&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50269320,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_001290061.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_001290060.2",
"protein_id": "NP_001276989.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616701.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290060.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000616701.5",
"protein_id": "ENSP00000484146.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616701.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000611067.4",
"protein_id": "ENSP00000480680.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 754,
"cds_start": 87,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611067.4"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000433753.4",
"protein_id": "ENSP00000485281.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 748,
"cds_start": 87,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433753.4"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942600.1",
"protein_id": "ENSP00000612659.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 756,
"cds_start": 87,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942600.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942595.1",
"protein_id": "ENSP00000612654.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 755,
"cds_start": 87,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942595.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_001290061.1",
"protein_id": "NP_001276990.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 754,
"cds_start": 87,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290061.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_001435956.1",
"protein_id": "NP_001422885.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435956.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_004636.4",
"protein_id": "NP_004627.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004636.4"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000618865.4",
"protein_id": "ENSP00000481957.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618865.4"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852511.1",
"protein_id": "ENSP00000522570.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852511.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852512.1",
"protein_id": "ENSP00000522571.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852512.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852513.1",
"protein_id": "ENSP00000522572.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852513.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852514.1",
"protein_id": "ENSP00000522573.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852514.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852515.1",
"protein_id": "ENSP00000522574.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852515.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000852516.1",
"protein_id": "ENSP00000522575.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852516.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942593.1",
"protein_id": "ENSP00000612652.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942593.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942594.1",
"protein_id": "ENSP00000612653.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942594.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942596.1",
"protein_id": "ENSP00000612655.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942596.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "ENST00000942597.1",
"protein_id": "ENSP00000612656.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 749,
"cds_start": 87,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942597.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_001005914.3",
"protein_id": "NP_001005914.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 748,
"cds_start": 87,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005914.3"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs",
"transcript": "NM_001435957.1",
"protein_id": "NP_001422886.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 748,
"cds_start": 87,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435957.1"
},
{
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},
{
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},
{
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{
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},
{
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],
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},
{
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],
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"gene_symbol": "SEMA3B",
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},
{
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"canonical": false,
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],
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"gene_symbol": "SEMA3B-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000736627.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "SEMA3B-AS1",
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"feature": "ENST00000736628.1"
},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"gene_symbol": "SEMA3B-AS1",
"gene_hgnc_id": 49096,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000736629.1"
}
],
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"dbsnp": "rs67324803",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.055,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290061.1",
"gene_symbol": "SEMA3B",
"hgnc_id": 10724,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.86dupC",
"hgvs_p": "p.Arg30fs"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000736627.1",
"gene_symbol": "SEMA3B-AS1",
"hgnc_id": 49096,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.134-2434dupG",
"hgvs_p": null
}
],
"clinvar_disease": "SEMA3B-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "SEMA3B-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}