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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: 3-123225264-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123225264&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123225264,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012430.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "NM_012430.5",
"protein_id": "NP_036562.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000492595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012430.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000492595.6",
"protein_id": "ENSP00000417972.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012430.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492595.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000309934.4",
"protein_id": "ENSP00000310521.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309934.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000487572.5",
"protein_id": "ENSP00000420015.1",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 217,
"cds_start": 508,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487572.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000908423.1",
"protein_id": "ENSP00000578482.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908423.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000908424.1",
"protein_id": "ENSP00000578483.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908424.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000916521.1",
"protein_id": "ENSP00000586580.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916521.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000916522.1",
"protein_id": "ENSP00000586581.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916522.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000916523.1",
"protein_id": "ENSP00000586582.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916523.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000916524.1",
"protein_id": "ENSP00000586583.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916524.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000916525.1",
"protein_id": "ENSP00000586584.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916525.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000945894.1",
"protein_id": "ENSP00000615953.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945894.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.499G>T",
"hgvs_p": "p.Val167Phe",
"transcript": "ENST00000945893.1",
"protein_id": "ENSP00000615952.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 304,
"cds_start": 499,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945893.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000908422.1",
"protein_id": "ENSP00000578481.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 302,
"cds_start": 508,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908422.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000908421.1",
"protein_id": "ENSP00000578480.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 300,
"cds_start": 508,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908421.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000473494.6",
"protein_id": "ENSP00000420343.2",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 287,
"cds_start": 508,
"cds_end": null,
"cds_length": 866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473494.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "ENST00000908419.1",
"protein_id": "ENSP00000578478.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 285,
"cds_start": 508,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908419.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "XM_011512673.4",
"protein_id": "XP_011510975.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512673.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "XM_011512675.4",
"protein_id": "XP_011510977.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512675.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "XM_011512676.4",
"protein_id": "XP_011510978.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512676.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "XM_047447957.1",
"protein_id": "XP_047303913.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447957.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe",
"transcript": "XM_047447958.1",
"protein_id": "XP_047303914.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 307,
"cds_start": 508,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447958.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.182+15865G>T",
"hgvs_p": null,
"transcript": "ENST00000481965.6",
"protein_id": "ENSP00000420128.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481965.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "n.*207G>T",
"hgvs_p": null,
"transcript": "ENST00000466950.5",
"protein_id": "ENSP00000417200.1",
"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": "ENST00000466950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "n.587G>T",
"hgvs_p": null,
"transcript": "ENST00000477063.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000477063.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "n.*207G>T",
"hgvs_p": null,
"transcript": "ENST00000466950.5",
"protein_id": "ENSP00000417200.1",
"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": "ENST00000466950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"hgvs_c": "c.*93G>T",
"hgvs_p": null,
"transcript": "ENST00000480631.5",
"protein_id": "ENSP00000420574.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA5",
"gene_hgnc_id": 24811,
"hgvs_c": "n.*509G>T",
"hgvs_p": null,
"transcript": "ENST00000469649.1",
"protein_id": "ENSP00000417199.1",
"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": "ENST00000469649.1"
}
],
"gene_symbol": "SEC22A",
"gene_hgnc_id": 20260,
"dbsnp": "rs1937200585",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13309112191200256,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.699,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012430.5",
"gene_symbol": "SEC22A",
"hgnc_id": 20260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Val170Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000469649.1",
"gene_symbol": "PDIA5",
"hgnc_id": 24811,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*509G>T",
"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
}