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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: 3-55699427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55699427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 55699427,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015576.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"transcript": "NM_015576.3",
"protein_id": "NP_056391.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 957,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288221.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015576.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"transcript": "ENST00000288221.11",
"protein_id": "ENSP00000288221.6",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 957,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015576.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288221.11"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.2798G>A",
"hgvs_p": null,
"transcript": "ENST00000460849.5",
"protein_id": "ENSP00000417445.1",
"transcript_support_level": 1,
"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": "ENST00000460849.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943Gln",
"transcript": "ENST00000940588.1",
"protein_id": "ENSP00000610647.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 967,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940588.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "ENST00000492584.3",
"protein_id": "ENSP00000417280.3",
"transcript_support_level": 5,
"aa_start": 941,
"aa_end": null,
"aa_length": 965,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492584.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "ENST00000941628.1",
"protein_id": "ENSP00000611687.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 965,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941628.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Gln",
"transcript": "XM_047447941.1",
"protein_id": "XP_047303897.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447941.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952Gln",
"transcript": "XM_017006141.2",
"protein_id": "XP_016861630.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 986,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006141.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
"transcript": "XM_047447942.1",
"protein_id": "XP_047303898.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 984,
"cds_start": 2849,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447942.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Arg948Gln",
"transcript": "XM_047447943.1",
"protein_id": "XP_047303899.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 982,
"cds_start": 2843,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447943.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945Gln",
"transcript": "XM_017006142.2",
"protein_id": "XP_016861631.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 979,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006142.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943Gln",
"transcript": "XM_047447944.1",
"protein_id": "XP_047303900.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 977,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447944.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943Gln",
"transcript": "XM_047447945.1",
"protein_id": "XP_047303901.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 977,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447945.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "XM_047447946.1",
"protein_id": "XP_047303902.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 975,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447946.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "XM_047447947.1",
"protein_id": "XP_047303903.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 975,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447947.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2819G>A",
"hgvs_p": "p.Arg940Gln",
"transcript": "XM_017006146.2",
"protein_id": "XP_016861635.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 974,
"cds_start": 2819,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006146.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Arg936Gln",
"transcript": "XM_017006148.2",
"protein_id": "XP_016861637.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 970,
"cds_start": 2807,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006148.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Arg936Gln",
"transcript": "XM_047447948.1",
"protein_id": "XP_047303904.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 970,
"cds_start": 2807,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447948.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"transcript": "XM_017006151.2",
"protein_id": "XP_016861640.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 967,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006151.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941Gln",
"transcript": "XM_047447949.1",
"protein_id": "XP_047303905.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 965,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447949.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_017006156.2",
"protein_id": "XP_016861645.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 963,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006156.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047447950.1",
"protein_id": "XP_047303906.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 963,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447950.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047447951.1",
"protein_id": "XP_047303907.1",
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"aa_start": 929,
"aa_end": null,
"aa_length": 953,
"cds_start": 2786,
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"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047447951.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
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"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047447952.1",
"protein_id": "XP_047303908.1",
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"aa_start": 929,
"aa_end": null,
"aa_length": 953,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.92G>A",
"hgvs_p": null,
"transcript": "ENST00000468118.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000468118.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.346G>A",
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"transcript": "ENST00000487287.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000487287.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.3158G>A",
"hgvs_p": null,
"transcript": "NR_132749.2",
"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_132749.2"
}
],
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"dbsnp": "rs776187868",
"frequency_reference_population": 0.000015494767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000157364,
"gnomad_genomes_af": 0.0000131695,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11929965019226074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.1731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.831,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015576.3",
"gene_symbol": "ERC2",
"hgnc_id": 31922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln"
}
],
"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
}