← 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: 10-33180219-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=33180219&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 33180219,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003873.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2629G>C",
"hgvs_p": "p.Val877Leu",
"transcript": "NM_003873.7",
"protein_id": "NP_003864.5",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 923,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374867.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003873.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2629G>C",
"hgvs_p": "p.Val877Leu",
"transcript": "ENST00000374867.7",
"protein_id": "ENSP00000364001.2",
"transcript_support_level": 1,
"aa_start": 877,
"aa_end": null,
"aa_length": 923,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003873.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374867.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2578G>C",
"hgvs_p": "p.Val860Leu",
"transcript": "ENST00000395995.5",
"protein_id": "ENSP00000379317.1",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 906,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395995.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2065G>C",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000374875.5",
"protein_id": "ENSP00000364009.1",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 735,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374875.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "ENST00000897564.1",
"protein_id": "ENSP00000567623.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 924,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897564.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2629G>C",
"hgvs_p": "p.Val877Leu",
"transcript": "ENST00000265371.8",
"protein_id": "ENSP00000265371.3",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 923,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265371.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2626G>C",
"hgvs_p": "p.Val876Leu",
"transcript": "ENST00000949864.1",
"protein_id": "ENSP00000619923.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 922,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949864.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2620G>C",
"hgvs_p": "p.Val874Leu",
"transcript": "ENST00000949868.1",
"protein_id": "ENSP00000619927.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 920,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949868.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2611G>C",
"hgvs_p": "p.Val871Leu",
"transcript": "NM_001244972.2",
"protein_id": "NP_001231901.2",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 917,
"cds_start": 2611,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244972.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2611G>C",
"hgvs_p": "p.Val871Leu",
"transcript": "ENST00000897565.1",
"protein_id": "ENSP00000567624.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 917,
"cds_start": 2611,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897565.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2608G>C",
"hgvs_p": "p.Val870Leu",
"transcript": "NM_001244973.2",
"protein_id": "NP_001231902.2",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 916,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244973.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2605G>C",
"hgvs_p": "p.Val869Leu",
"transcript": "ENST00000949862.1",
"protein_id": "ENSP00000619921.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 915,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949862.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2605G>C",
"hgvs_p": "p.Val869Leu",
"transcript": "ENST00000949863.1",
"protein_id": "ENSP00000619922.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 915,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949863.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2602G>C",
"hgvs_p": "p.Val868Leu",
"transcript": "ENST00000949872.1",
"protein_id": "ENSP00000619931.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 914,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949872.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2578G>C",
"hgvs_p": "p.Val860Leu",
"transcript": "NM_001330068.2",
"protein_id": "NP_001316997.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 906,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330068.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2527G>C",
"hgvs_p": "p.Val843Leu",
"transcript": "ENST00000949861.1",
"protein_id": "ENSP00000619920.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 889,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949861.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2524G>C",
"hgvs_p": "p.Val842Leu",
"transcript": "ENST00000897563.1",
"protein_id": "ENSP00000567622.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 888,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897563.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2494G>C",
"hgvs_p": "p.Val832Leu",
"transcript": "ENST00000949865.1",
"protein_id": "ENSP00000619924.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 878,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949865.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2491G>C",
"hgvs_p": "p.Val831Leu",
"transcript": "ENST00000949867.1",
"protein_id": "ENSP00000619926.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 877,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949867.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2473G>C",
"hgvs_p": "p.Val825Leu",
"transcript": "ENST00000949866.1",
"protein_id": "ENSP00000619925.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 871,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949866.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2470G>C",
"hgvs_p": "p.Val824Leu",
"transcript": "ENST00000949873.1",
"protein_id": "ENSP00000619932.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 870,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949873.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2452G>C",
"hgvs_p": "p.Val818Leu",
"transcript": "ENST00000949869.1",
"protein_id": "ENSP00000619928.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 864,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949869.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Val801Leu",
"transcript": "ENST00000949870.1",
"protein_id": "ENSP00000619929.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 847,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949870.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2380G>C",
"hgvs_p": "p.Val794Leu",
"transcript": "ENST00000949871.1",
"protein_id": "ENSP00000619930.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 840,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949871.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "ENST00000413802.1",
"protein_id": "ENSP00000390447.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 105,
"cds_start": 175,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413802.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "XM_006717521.3",
"protein_id": "XP_006717584.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 924,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717521.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2581G>C",
"hgvs_p": "p.Val861Leu",
"transcript": "XM_006717522.3",
"protein_id": "XP_006717585.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 907,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717522.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2560G>C",
"hgvs_p": "p.Val854Leu",
"transcript": "XM_047425976.1",
"protein_id": "XP_047281932.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 900,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425976.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2557G>C",
"hgvs_p": "p.Val853Leu",
"transcript": "XM_017016865.3",
"protein_id": "XP_016872354.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 899,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016865.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2527G>C",
"hgvs_p": "p.Val843Leu",
"transcript": "XM_006717524.3",
"protein_id": "XP_006717587.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 889,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717524.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2524G>C",
"hgvs_p": "p.Val842Leu",
"transcript": "XM_006717525.3",
"protein_id": "XP_006717588.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 888,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717525.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2473G>C",
"hgvs_p": "p.Val825Leu",
"transcript": "XM_047425977.1",
"protein_id": "XP_047281933.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 871,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425977.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "c.2089G>C",
"hgvs_p": "p.Val697Leu",
"transcript": "XM_047425978.1",
"protein_id": "XP_047281934.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 743,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"hgvs_c": "n.2711G>C",
"hgvs_p": null,
"transcript": "NR_045259.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_045259.2"
}
],
"gene_symbol": "NRP1",
"gene_hgnc_id": 8004,
"dbsnp": "rs778630230",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.414124071598053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003873.7",
"gene_symbol": "NRP1",
"hgnc_id": 8004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2629G>C",
"hgvs_p": "p.Val877Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}