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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: 20-36549127-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36549127&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36549127,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006097.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "NM_006097.5",
"protein_id": "NP_006088.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279022.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006097.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000279022.7",
"protein_id": "ENSP00000279022.2",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006097.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279022.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "ENST00000346786.2",
"protein_id": "ENSP00000217313.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 118,
"cds_start": 235,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.467+22314G>A",
"hgvs_p": null,
"transcript": "ENST00000439595.5",
"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": "pseudogene",
"feature": "ENST00000439595.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000866578.1",
"protein_id": "ENSP00000536637.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 180,
"cds_start": 421,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866572.1",
"protein_id": "ENSP00000536631.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866572.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866573.1",
"protein_id": "ENSP00000536632.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866573.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866574.1",
"protein_id": "ENSP00000536633.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866574.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866575.1",
"protein_id": "ENSP00000536634.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866575.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866577.1",
"protein_id": "ENSP00000536636.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866577.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866579.1",
"protein_id": "ENSP00000536638.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866579.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866580.1",
"protein_id": "ENSP00000536639.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866580.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866581.1",
"protein_id": "ENSP00000536640.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866581.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866582.1",
"protein_id": "ENSP00000536641.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866582.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000866583.1",
"protein_id": "ENSP00000536642.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866583.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys",
"transcript": "ENST00000946382.1",
"protein_id": "ENSP00000616441.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 397,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946382.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000866576.1",
"protein_id": "ENSP00000536635.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 167,
"cds_start": 382,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866576.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"transcript": "NM_181526.3",
"protein_id": "NP_852667.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 118,
"cds_start": 235,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181526.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.603-21203G>A",
"hgvs_p": null,
"transcript": "ENST00000425233.7",
"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": "ENST00000425233.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.576+22314G>A",
"hgvs_p": null,
"transcript": "ENST00000793269.1",
"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": "pseudogene",
"feature": "ENST00000793269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.579-21203G>A",
"hgvs_p": null,
"transcript": "ENST00000793270.1",
"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": "pseudogene",
"feature": "ENST00000793270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
"hgvs_c": "n.567+22314G>A",
"hgvs_p": null,
"transcript": "ENST00000793271.1",
"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": "pseudogene",
"feature": "ENST00000793271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "DLGAP4-AS1",
"gene_hgnc_id": 51223,
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"biotype": "pseudogene",
"feature": "ENST00000793272.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "DLGAP4-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000793273.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "DLGAP4-AS1",
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"hgvs_c": "n.486+22314G>A",
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"transcript": "ENST00000793274.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000793274.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "DLGAP4-AS1",
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"transcript": "ENST00000793275.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000793275.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "DLGAP4-AS1",
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"hgvs_c": "n.467+22314G>A",
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"transcript": "NR_109939.1",
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"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_109939.1"
}
],
"gene_symbol": "MYL9",
"gene_hgnc_id": 15754,
"dbsnp": "rs771760122",
"frequency_reference_population": 0.0000049579257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478981,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7356607913970947,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.017,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006097.5",
"gene_symbol": "MYL9",
"hgnc_id": 15754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439595.5",
"gene_symbol": "DLGAP4-AS1",
"hgnc_id": 51223,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.467+22314G>A",
"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
}