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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: 6-151405236-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151405236&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 151405236,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "NM_017909.4",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter",
"transcript": "NM_017909.4",
"protein_id": "NP_060379.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 449,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444024.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017909.4"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter",
"transcript": "ENST00000444024.3",
"protein_id": "ENSP00000412708.2",
"transcript_support_level": 3,
"aa_start": 450,
"aa_end": null,
"aa_length": 449,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017909.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444024.3"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Ter458Ter",
"transcript": "ENST00000949374.1",
"protein_id": "ENSP00000619433.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 457,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949374.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter",
"transcript": "ENST00000683724.1",
"protein_id": "ENSP00000507984.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 449,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683724.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter",
"transcript": "ENST00000949375.1",
"protein_id": "ENSP00000619434.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 449,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949375.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ter446Ter",
"transcript": "ENST00000938884.1",
"protein_id": "ENSP00000608943.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 445,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938884.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Ter403Ter",
"transcript": "ENST00000938883.1",
"protein_id": "ENSP00000608942.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 402,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938883.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Ter384Ter",
"transcript": "ENST00000682299.1",
"protein_id": "ENSP00000506811.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 383,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682299.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Ter359Ter",
"transcript": "ENST00000904151.1",
"protein_id": "ENSP00000574210.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 358,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904151.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Ter280Ter",
"transcript": "NM_001271937.2",
"protein_id": "NP_001258866.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 279,
"cds_start": 839,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271937.2"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Ter280Ter",
"transcript": "ENST00000622845.5",
"protein_id": "ENSP00000481280.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 279,
"cds_start": 839,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622845.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter",
"transcript": "XM_047418959.1",
"protein_id": "XP_047274915.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 449,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "c.1317+484G>A",
"hgvs_p": null,
"transcript": "ENST00000682641.1",
"protein_id": "ENSP00000506793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*748G>A",
"hgvs_p": null,
"transcript": "ENST00000336451.8",
"protein_id": "ENSP00000336683.4",
"transcript_support_level": 2,
"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": "ENST00000336451.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*272G>A",
"hgvs_p": null,
"transcript": "ENST00000644711.1",
"protein_id": "ENSP00000494106.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000644711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000646926.2",
"protein_id": "ENSP00000494215.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000646926.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.2739G>A",
"hgvs_p": null,
"transcript": "ENST00000682004.1",
"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": "retained_intron",
"feature": "ENST00000682004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*150G>A",
"hgvs_p": null,
"transcript": "ENST00000682392.1",
"protein_id": "ENSP00000508314.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.3632G>A",
"hgvs_p": null,
"transcript": "ENST00000683439.1",
"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": "retained_intron",
"feature": "ENST00000683439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*821G>A",
"hgvs_p": null,
"transcript": "ENST00000684301.1",
"protein_id": "ENSP00000507824.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000684301.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.1889G>A",
"hgvs_p": null,
"transcript": "ENST00000684605.1",
"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": "retained_intron",
"feature": "ENST00000684605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"hgvs_c": "n.*277G>A",
"hgvs_p": null,
"transcript": "ENST00000684765.1",
"protein_id": "ENSP00000507910.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000684765.1"
},
{
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{
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{
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"transcript": "ENST00000646926.2",
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},
{
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{
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"gene_symbol": "RMND1",
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{
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"3_prime_UTR_variant"
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"gene_symbol": "RMND1",
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"hgvs_c": "n.*277G>A",
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"transcript": "ENST00000684765.1",
"protein_id": "ENSP00000507910.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684765.1"
}
],
"gene_symbol": "RMND1",
"gene_hgnc_id": 21176,
"dbsnp": "rs115079861",
"frequency_reference_population": 0.002909256,
"hom_count_reference_population": 118,
"allele_count_reference_population": 4690,
"gnomad_exomes_af": 0.00155424,
"gnomad_genomes_af": 0.0159046,
"gnomad_exomes_ac": 2269,
"gnomad_genomes_ac": 2421,
"gnomad_exomes_homalt": 58,
"gnomad_genomes_homalt": 60,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_017909.4",
"gene_symbol": "RMND1",
"hgnc_id": 21176,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Ter450Ter"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}