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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: 19-45518031-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45518031&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45518031,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003370.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "NM_003370.4",
"protein_id": "NP_003361.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000245932.11",
"protein_id": "ENSP00000245932.5",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916562.1",
"protein_id": "ENSP00000586621.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 411,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862928.1",
"protein_id": "ENSP00000532987.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 389,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916565.1",
"protein_id": "ENSP00000586624.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 388,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000952562.1",
"protein_id": "ENSP00000622621.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 385,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"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.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862924.1",
"protein_id": "ENSP00000532983.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 380,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916557.1",
"protein_id": "ENSP00000586616.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 379,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916560.1",
"protein_id": "ENSP00000586619.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 379,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862925.1",
"protein_id": "ENSP00000532984.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862926.1",
"protein_id": "ENSP00000532985.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916558.1",
"protein_id": "ENSP00000586617.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916559.1",
"protein_id": "ENSP00000586618.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916561.1",
"protein_id": "ENSP00000586620.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916564.1",
"protein_id": "ENSP00000586623.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 377,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862929.1",
"protein_id": "ENSP00000532988.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 335,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000916563.1",
"protein_id": "ENSP00000586622.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 335,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Gly35Ser",
"transcript": "ENST00000705986.1",
"protein_id": "ENSP00000516196.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 320,
"cds_start": 103,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "ENST00000862927.1",
"protein_id": "ENSP00000532986.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 249,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "XM_005259199.3",
"protein_id": "XP_005259256.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 379,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "XM_005259200.3",
"protein_id": "XP_005259257.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 379,
"cds_start": 280,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASP",
"gene_hgnc_id": 12652,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Ser",
"transcript": "XM_017027200.3",
"protein_id": "XP_016882689.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 378,
"cds_start": 280,
"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,
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{
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{
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{
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{
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],
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"computational_score_selected": 0.22085624933242798,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.416,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -6,
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003370.4",
"gene_symbol": "VASP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Gly94Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}