← Back to variant description
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: 6-43770804-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43770804&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43770804,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003376.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_003376.6",
"protein_id": "NP_003367.4",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 395,
"cds_start": 98,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": "ENST00000672860.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000672860.3",
"protein_id": "ENSP00000500082.3",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 395,
"cds_start": 98,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": "NM_003376.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000372055.9",
"protein_id": "ENSP00000361125.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 412,
"cds_start": 98,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000425836.9",
"protein_id": "ENSP00000388465.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 393,
"cds_start": 98,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000413642.8",
"protein_id": "ENSP00000389864.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 389,
"cds_start": 98,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000372067.8",
"protein_id": "ENSP00000361137.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 371,
"cds_start": 98,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000482630.7",
"protein_id": "ENSP00000421561.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 371,
"cds_start": 98,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000417285.7",
"protein_id": "ENSP00000388663.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 98,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000372064.9",
"protein_id": "ENSP00000361134.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 327,
"cds_start": 98,
"cds_end": null,
"cds_length": 984,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Gly4Val",
"transcript": "ENST00000519767.5",
"protein_id": "ENSP00000430594.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 322,
"cds_start": 11,
"cds_end": null,
"cds_length": 969,
"cdna_start": 12,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "ENST00000324450.11",
"protein_id": "ENSP00000317598.7",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 317,
"cds_start": 98,
"cds_end": null,
"cds_length": 954,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "n.621G>T",
"hgvs_p": null,
"transcript": "ENST00000476772.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "ENST00000372077.8",
"protein_id": "ENSP00000361148.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001025366.3",
"protein_id": "NP_001020537.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 412,
"cds_start": 98,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001025367.3",
"protein_id": "NP_001020538.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 389,
"cds_start": 98,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001025368.3",
"protein_id": "NP_001020539.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 371,
"cds_start": 98,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001033756.3",
"protein_id": "NP_001028928.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 371,
"cds_start": 98,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001025369.3",
"protein_id": "NP_001020540.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 354,
"cds_start": 98,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001204385.2",
"protein_id": "NP_001191314.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 351,
"cds_start": 98,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001025370.3",
"protein_id": "NP_001020541.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 327,
"cds_start": 98,
"cds_end": null,
"cds_length": 984,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "NM_001171622.2",
"protein_id": "NP_001165093.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 317,
"cds_start": 98,
"cds_end": null,
"cds_length": 954,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171623.2",
"protein_id": "NP_001165094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171624.2",
"protein_id": "NP_001165095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001317010.2",
"protein_id": "NP_001303939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171625.2",
"protein_id": "NP_001165096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171626.2",
"protein_id": "NP_001165097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171629.2",
"protein_id": "NP_001165100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171627.2",
"protein_id": "NP_001165098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001204384.2",
"protein_id": "NP_001191313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171628.2",
"protein_id": "NP_001165099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"hgvs_c": "c.-443G>T",
"hgvs_p": null,
"transcript": "NM_001171630.2",
"protein_id": "NP_001165101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272114",
"gene_hgnc_id": null,
"hgvs_c": "n.-188C>A",
"hgvs_p": null,
"transcript": "ENST00000607600.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VEGFA",
"gene_hgnc_id": 12680,
"dbsnp": "rs1355913467",
"frequency_reference_population": 0.000002212024,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000221202,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06369933485984802,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.599,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003376.6",
"gene_symbol": "VEGFA",
"hgnc_id": 12680,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000607600.1",
"gene_symbol": "ENSG00000272114",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-188C>A",
"hgvs_p": null
}
],
"clinvar_disease": " 1, susceptibility to,Microvascular complications of diabetes",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Microvascular complications of diabetes, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}