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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: 1-42830933-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42830933&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42830933,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018538.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "NM_001017922.2",
"protein_id": "NP_001017922.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372517.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017922.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000372517.8",
"protein_id": "ENSP00000361595.2",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017922.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372517.8"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000372514.7",
"protein_id": "ENSP00000361592.3",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372514.7"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.1019A>C",
"hgvs_p": null,
"transcript": "ENST00000328249.3",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000328249.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "NM_018538.4",
"protein_id": "NP_061008.2",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018538.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881413.1",
"protein_id": "ENSP00000551472.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881413.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881416.1",
"protein_id": "ENSP00000551475.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881416.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881418.1",
"protein_id": "ENSP00000551477.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881418.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881419.1",
"protein_id": "ENSP00000551478.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881419.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881420.1",
"protein_id": "ENSP00000551479.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881420.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000968887.1",
"protein_id": "ENSP00000638946.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968887.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000968888.1",
"protein_id": "ENSP00000638947.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968888.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881414.1",
"protein_id": "ENSP00000551473.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 468,
"cds_start": 251,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881414.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000968886.1",
"protein_id": "ENSP00000638945.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 468,
"cds_start": 251,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968886.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000968890.1",
"protein_id": "ENSP00000638949.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 468,
"cds_start": 251,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968890.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881415.1",
"protein_id": "ENSP00000551474.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 425,
"cds_start": 251,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881415.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "ENST00000881417.1",
"protein_id": "ENSP00000551476.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 407,
"cds_start": 251,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881417.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.449A>C",
"hgvs_p": "p.Lys150Thr",
"transcript": "XM_047443586.1",
"protein_id": "XP_047299542.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 541,
"cds_start": 449,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443586.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.449A>C",
"hgvs_p": "p.Lys150Thr",
"transcript": "XM_047443588.1",
"protein_id": "XP_047299544.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 534,
"cds_start": 449,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443588.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "XM_006710313.5",
"protein_id": "XP_006710376.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710313.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "XM_011540570.4",
"protein_id": "XP_011538872.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540570.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr",
"transcript": "XM_047443591.1",
"protein_id": "XP_047299547.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 475,
"cds_start": 251,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443591.1"
},
{
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{
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],
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"biotype": "protein_coding",
"feature": "ENST00000968889.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"biotype": "protein_coding",
"feature": "XM_047443595.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000642150.1"
},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"biotype": "pseudogene",
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{
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"intron_variant"
],
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"gene_symbol": "ERMAP",
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"biotype": "pseudogene",
"feature": "ENST00000647120.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "ERMAP",
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"hgvs_c": "n.*159A>C",
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"transcript": "ENST00000643061.1",
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"biotype": "retained_intron",
"feature": "ENST00000643061.1"
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],
"gene_symbol": "ERMAP",
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"dbsnp": "rs201143776",
"frequency_reference_population": 0.00009417118,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.0000943985,
"gnomad_genomes_af": 0.0000919879,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15699192881584167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.1543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.178,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018538.4",
"gene_symbol": "ERMAP",
"hgnc_id": 15743,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.251A>C",
"hgvs_p": "p.Lys84Thr"
}
],
"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
}