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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: 19-45521361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45521361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45521361,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003370.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "NM_003370.4",
"protein_id": "NP_003361.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 380,
"cds_start": 383,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245932.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003370.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000245932.11",
"protein_id": "ENSP00000245932.5",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 380,
"cds_start": 383,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003370.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245932.11"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "ENST00000916562.1",
"protein_id": "ENSP00000586621.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 411,
"cds_start": 476,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916562.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862928.1",
"protein_id": "ENSP00000532987.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 389,
"cds_start": 383,
"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": "ENST00000862928.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000916565.1",
"protein_id": "ENSP00000586624.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 388,
"cds_start": 383,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916565.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000952562.1",
"protein_id": "ENSP00000622621.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 385,
"cds_start": 383,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952562.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862924.1",
"protein_id": "ENSP00000532983.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 380,
"cds_start": 383,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862924.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu",
"transcript": "ENST00000916557.1",
"protein_id": "ENSP00000586616.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 379,
"cds_start": 380,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916557.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000916560.1",
"protein_id": "ENSP00000586619.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 379,
"cds_start": 383,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916560.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862925.1",
"protein_id": "ENSP00000532984.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 378,
"cds_start": 383,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862925.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862926.1",
"protein_id": "ENSP00000532985.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 378,
"cds_start": 383,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862926.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000916558.1",
"protein_id": "ENSP00000586617.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 378,
"cds_start": 383,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916558.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu",
"transcript": "ENST00000916559.1",
"protein_id": "ENSP00000586618.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 378,
"cds_start": 380,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916559.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000916561.1",
"protein_id": "ENSP00000586620.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 378,
"cds_start": 383,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916561.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Ser127Leu",
"transcript": "ENST00000916564.1",
"protein_id": "ENSP00000586623.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 377,
"cds_start": 380,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916564.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862929.1",
"protein_id": "ENSP00000532988.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 335,
"cds_start": 383,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862929.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.206C>T",
"hgvs_p": "p.Ser69Leu",
"transcript": "ENST00000705986.1",
"protein_id": "ENSP00000516196.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 320,
"cds_start": 206,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705986.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000862927.1",
"protein_id": "ENSP00000532986.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 249,
"cds_start": 383,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862927.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "XM_005259199.3",
"protein_id": "XP_005259256.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 379,
"cds_start": 383,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259199.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "XM_005259200.3",
"protein_id": "XP_005259257.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 379,
"cds_start": 383,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259200.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "XM_017027200.3",
"protein_id": "XP_016882689.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 378,
"cds_start": 383,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027200.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.344-979C>T",
"hgvs_p": null,
"transcript": "ENST00000916563.1",
"protein_id": "ENSP00000586622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.94-1174C>T",
"hgvs_p": null,
"transcript": "ENST00000592139.1",
"protein_id": "ENSP00000464742.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592139.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "VASP",
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"hgvs_c": "c.6-807C>T",
"hgvs_p": null,
"transcript": "ENST00000590603.1",
"protein_id": "ENSP00000467773.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590603.1"
},
{
"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": 11,
"intron_rank": 3,
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"gene_symbol": "VASP",
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"hgvs_c": "n.213-1162C>T",
"hgvs_p": null,
"transcript": "ENST00000586014.5",
"protein_id": "ENSP00000467005.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000586014.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "n.606-807C>T",
"hgvs_p": null,
"transcript": "ENST00000586619.1",
"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": "ENST00000586619.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC107985315",
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"hgvs_c": "n.38-118G>A",
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"transcript": "XR_001753959.1",
"protein_id": null,
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"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_001753959.1"
}
],
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"dbsnp": "rs774254232",
"frequency_reference_population": 0.000013912991,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000139953,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10506153106689453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.104,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.31,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003370.4",
"gene_symbol": "VASP",
"hgnc_id": 12652,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001753959.1",
"gene_symbol": "LOC107985315",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.38-118G>A",
"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
}