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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: 9-89363868-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89363868&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 89363868,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001142287.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.120C>A",
"hgvs_p": "p.Pro40Pro",
"transcript": "ENST00000420101.6",
"protein_id": "ENSP00000399948.2",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 123,
"cds_start": 120,
"cds_end": null,
"cds_length": 372,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420101.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "n.1787C>A",
"hgvs_p": null,
"transcript": "ENST00000475255.5",
"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": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475255.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1529C>A",
"hgvs_p": "p.Pro510Gln",
"transcript": "XM_047422629.1",
"protein_id": "XP_047278585.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 548,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422629.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001142287.2",
"protein_id": "NP_001135759.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142287.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001371198.1",
"protein_id": "NP_001358127.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371198.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001371199.1",
"protein_id": "NP_001358128.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371199.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001371200.1",
"protein_id": "NP_001358129.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371200.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001371201.1",
"protein_id": "NP_001358130.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371201.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "ENST00000339861.8",
"protein_id": "ENSP00000344923.4",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339861.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "ENST00000420987.5",
"protein_id": "ENSP00000391733.1",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420987.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "ENST00000455551.6",
"protein_id": "ENSP00000411981.2",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455551.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.2133C>A",
"hgvs_p": "p.Pro711Pro",
"transcript": "XM_047422620.1",
"protein_id": "XP_047278576.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 794,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422620.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.2133C>A",
"hgvs_p": "p.Pro711Pro",
"transcript": "XM_047422621.1",
"protein_id": "XP_047278577.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 794,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422621.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.2133C>A",
"hgvs_p": "p.Pro711Pro",
"transcript": "XM_047422622.1",
"protein_id": "XP_047278578.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 794,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422622.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.2133C>A",
"hgvs_p": "p.Pro711Pro",
"transcript": "XM_047422623.1",
"protein_id": "XP_047278579.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 794,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422623.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047422624.1",
"protein_id": "XP_047278580.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422624.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047422625.1",
"protein_id": "XP_047278581.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422625.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047422626.1",
"protein_id": "XP_047278582.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422626.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047422627.1",
"protein_id": "XP_047278583.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422627.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro",
"transcript": "XM_047422628.1",
"protein_id": "XP_047278584.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 738,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422628.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.*3076G>T",
"hgvs_p": null,
"transcript": "XM_047423856.1",
"protein_id": "XP_047279812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.*3073G>T",
"hgvs_p": null,
"transcript": "XM_047423857.1",
"protein_id": "XP_047279813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SECISBP2",
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"transcript": "XR_929840.2",
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 18,
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"gene_symbol": "SECISBP2",
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"hgvs_c": "c.*3076G>T",
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"transcript": "ENST00000935999.1",
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"biotype": "protein_coding",
"feature": "ENST00000935999.1"
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],
"gene_symbol": "SEMA4D",
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"dbsnp": "rs45515192",
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"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": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.495,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001142287.2",
"gene_symbol": "SEMA4D",
"hgnc_id": 10732,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Pro655Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007061346.1",
"gene_symbol": "SECISBP2",
"hgnc_id": 30972,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4242G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}