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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: 12-110913289-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110913289&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110913289,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000432.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "NM_000432.4",
"protein_id": "NP_000423.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228841.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000432.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000228841.15",
"protein_id": "ENSP00000228841.8",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000432.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228841.15"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713800.1",
"protein_id": "ENSP00000519106.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713800.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713803.1",
"protein_id": "ENSP00000519109.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713803.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713804.1",
"protein_id": "ENSP00000519110.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713804.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713805.1",
"protein_id": "ENSP00000519111.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713805.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713806.1",
"protein_id": "ENSP00000519112.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713806.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713826.1",
"protein_id": "ENSP00000519130.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713826.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713828.1",
"protein_id": "ENSP00000519132.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713828.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713829.1",
"protein_id": "ENSP00000519133.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713829.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713830.1",
"protein_id": "ENSP00000519134.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713830.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000713831.1",
"protein_id": "ENSP00000519135.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 166,
"cds_start": 310,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713831.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.307A>C",
"hgvs_p": "p.Lys103Gln",
"transcript": "ENST00000966752.1",
"protein_id": "ENSP00000636811.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 165,
"cds_start": 307,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966752.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.304A>C",
"hgvs_p": "p.Lys102Gln",
"transcript": "ENST00000966753.1",
"protein_id": "ENSP00000636812.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 164,
"cds_start": 304,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966753.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000880460.1",
"protein_id": "ENSP00000550519.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 163,
"cds_start": 310,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880460.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.289A>C",
"hgvs_p": "p.Lys97Gln",
"transcript": "ENST00000880461.1",
"protein_id": "ENSP00000550520.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 159,
"cds_start": 289,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880461.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Lys96Gln",
"transcript": "ENST00000966754.1",
"protein_id": "ENSP00000636813.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 158,
"cds_start": 286,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966754.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.268A>C",
"hgvs_p": "p.Lys90Gln",
"transcript": "NM_001406745.1",
"protein_id": "NP_001393674.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 152,
"cds_start": 268,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406745.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.268A>C",
"hgvs_p": "p.Lys90Gln",
"transcript": "ENST00000548438.1",
"protein_id": "ENSP00000447154.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 152,
"cds_start": 268,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548438.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Lys85Gln",
"transcript": "NM_001406916.1",
"protein_id": "NP_001393845.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 147,
"cds_start": 253,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406916.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Lys85Gln",
"transcript": "ENST00000663220.1",
"protein_id": "ENSP00000499568.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 147,
"cds_start": 253,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000663220.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln",
"transcript": "ENST00000880458.1",
"protein_id": "ENSP00000550517.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 147,
"cds_start": 310,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880458.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "MYL2",
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"transcript": "ENST00000713827.1",
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"biotype": "protein_coding",
"feature": "ENST00000713827.1"
},
{
"aa_ref": "K",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 6,
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"gene_symbol": "MYL2",
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"hgvs_p": "p.Lys69Gln",
"transcript": "ENST00000880462.1",
"protein_id": "ENSP00000550521.1",
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"aa_start": 69,
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"cds_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000880462.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "MYL2",
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"hgvs_c": "c.94-2114A>C",
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"transcript": "ENST00000880459.1",
"protein_id": "ENSP00000550518.1",
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"aa_length": 63,
"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000880459.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "MYL2",
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"hgvs_c": "c.4-2114A>C",
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"transcript": "ENST00000966755.1",
"protein_id": "ENSP00000636814.1",
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"aa_length": 33,
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"biotype": "protein_coding",
"feature": "ENST00000966755.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "n.141A>C",
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"transcript": "ENST00000549029.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000549029.1"
}
],
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"dbsnp": "rs199474811",
"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": 0.7601876258850098,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.703,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1487,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.674,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000432.4",
"gene_symbol": "MYL2",
"hgnc_id": 7583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.310A>C",
"hgvs_p": "p.Lys104Gln"
}
],
"clinvar_disease": "Cardiomyopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}