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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: 10-33334323-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=33334323&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 33334323,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000374867.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_003873.7",
"protein_id": "NP_003864.5",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 923,
"cds_start": 60,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": "ENST00000374867.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000374867.7",
"protein_id": "ENSP00000364001.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 923,
"cds_start": 60,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": "NM_003873.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000395995.5",
"protein_id": "ENSP00000379317.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 906,
"cds_start": 60,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000374823.9",
"protein_id": "ENSP00000363956.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 704,
"cds_start": 60,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 60,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000374822.8",
"protein_id": "ENSP00000363955.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 644,
"cds_start": 60,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000374816.7",
"protein_id": "ENSP00000363949.3",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 641,
"cds_start": 60,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000374821.9",
"protein_id": "ENSP00000363954.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 609,
"cds_start": 60,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000432372.6",
"protein_id": "ENSP00000408911.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 597,
"cds_start": 60,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.-302C>T",
"hgvs_p": null,
"transcript": "ENST00000374875.5",
"protein_id": "ENSP00000364009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "ENST00000265371.8",
"protein_id": "ENSP00000265371.3",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 923,
"cds_start": 60,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_001244972.2",
"protein_id": "NP_001231901.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 917,
"cds_start": 60,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_001244973.2",
"protein_id": "NP_001231902.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 916,
"cds_start": 60,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_001330068.2",
"protein_id": "NP_001316997.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 906,
"cds_start": 60,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_001024628.3",
"protein_id": "NP_001019799.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 644,
"cds_start": 60,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "NM_001024629.3",
"protein_id": "NP_001019800.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 609,
"cds_start": 60,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_006717521.3",
"protein_id": "XP_006717584.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 924,
"cds_start": 60,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_006717522.3",
"protein_id": "XP_006717585.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 907,
"cds_start": 60,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_047425976.1",
"protein_id": "XP_047281932.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 900,
"cds_start": 60,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_017016865.3",
"protein_id": "XP_016872354.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 899,
"cds_start": 60,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_006717524.3",
"protein_id": "XP_006717587.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 889,
"cds_start": 60,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_006717525.3",
"protein_id": "XP_006717588.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 888,
"cds_start": 60,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_047425977.1",
"protein_id": "XP_047281933.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 871,
"cds_start": 60,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
"transcript": "XM_006717526.3",
"protein_id": "XP_006717589.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 663,
"cds_start": 60,
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},
{
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"protein_coding": true,
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "NRP1",
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"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly",
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"protein_id": "XP_011518058.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 16,
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"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "n.345C>T",
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"transcript": "NR_045259.2",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"dbsnp": "rs3750733",
"frequency_reference_population": 0.09392987,
"hom_count_reference_population": 7778,
"allele_count_reference_population": 144844,
"gnomad_exomes_af": 0.0954695,
"gnomad_genomes_af": 0.0798736,
"gnomad_exomes_ac": 132685,
"gnomad_genomes_ac": 12159,
"gnomad_exomes_homalt": 7157,
"gnomad_genomes_homalt": 621,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.583,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374867.7",
"gene_symbol": "NRP1",
"hgnc_id": 8004,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Gly20Gly"
}
],
"clinvar_disease": "NRP1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NRP1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}