← Back to variant description
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: 1-224960291-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224960291&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224960291,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001367479.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4617,
"cds_start": 356,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367479.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4617,
"cds_start": 356,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682510.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000400952.7",
"protein_id": "ENSP00000383737.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 453,
"cds_start": 356,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400952.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000366849.5",
"protein_id": "ENSP00000355814.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 430,
"cds_start": 356,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366849.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000366848.5",
"protein_id": "ENSP00000355813.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 228,
"cds_start": 356,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366848.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 4515,
"cds_start": 356,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430092.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 4515,
"cds_start": 356,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439375.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "NM_001145154.3",
"protein_id": "NP_001138626.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 453,
"cds_start": 356,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145154.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "NM_001349911.2",
"protein_id": "NP_001336840.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 430,
"cds_start": 356,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349911.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "NM_001367481.1",
"protein_id": "NP_001354410.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 279,
"cds_start": 356,
"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_001367481.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "NM_144989.3",
"protein_id": "NP_659426.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 228,
"cds_start": 356,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144989.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000366850.7",
"protein_id": "ENSP00000355815.3",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 228,
"cds_start": 356,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366850.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4616,
"cds_start": 356,
"cds_end": null,
"cds_length": 13851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544058.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4601,
"cds_start": 356,
"cds_end": null,
"cds_length": 13806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544059.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4592,
"cds_start": 356,
"cds_end": null,
"cds_length": 13779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000295.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4586,
"cds_start": 356,
"cds_end": null,
"cds_length": 13761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711735.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4584,
"cds_start": 356,
"cds_end": null,
"cds_length": 13755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000296.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4582,
"cds_start": 356,
"cds_end": null,
"cds_length": 13749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544061.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4578,
"cds_start": 356,
"cds_end": null,
"cds_length": 13737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000297.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4565,
"cds_start": 356,
"cds_end": null,
"cds_length": 13698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544062.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544063.3",
"protein_id": "XP_011542365.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4564,
"cds_start": 356,
"cds_end": null,
"cds_length": 13695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544063.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4561,
"cds_start": 356,
"cds_end": null,
"cds_length": 13686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544064.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4553,
"cds_start": 356,
"cds_end": null,
"cds_length": 13662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544065.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4545,
"cds_start": 356,
"cds_end": null,
"cds_length": 13638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544066.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544067.3",
"protein_id": "XP_011542369.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4541,
"cds_start": 356,
"cds_end": null,
"cds_length": 13626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544067.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4504,
"cds_start": 356,
"cds_end": null,
"cds_length": 13515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445624.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4499,
"cds_start": 356,
"cds_end": null,
"cds_length": 13500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544069.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544070.3",
"protein_id": "XP_011542372.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4491,
"cds_start": 356,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544070.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544071.3",
"protein_id": "XP_011542373.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4441,
"cds_start": 356,
"cds_end": null,
"cds_length": 13326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544071.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_011544072.3",
"protein_id": "XP_011542374.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 4178,
"cds_start": 356,
"cds_end": null,
"cds_length": 12537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544072.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "XM_017000298.2",
"protein_id": "XP_016855787.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 3888,
"cds_start": 356,
"cds_end": null,
"cds_length": 11667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000298.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.749-4188A>G",
"hgvs_p": null,
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3507,
"cds_start": null,
"cds_end": null,
"cds_length": 10524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445597.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.218-4188A>G",
"hgvs_p": null,
"transcript": "NM_001349912.2",
"protein_id": "NP_001336841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.59-4188A>G",
"hgvs_p": null,
"transcript": "ENST00000433124.1",
"protein_id": "ENSP00000409971.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.363A>G",
"hgvs_p": null,
"transcript": "ENST00000486657.1",
"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": "retained_intron",
"feature": "ENST00000486657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.707A>G",
"hgvs_p": null,
"transcript": "ENST00000498360.5",
"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": "ENST00000498360.5"
}
],
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"dbsnp": "rs202149727",
"frequency_reference_population": 0.000037503516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000400633,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3096918761730194,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.3828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.609,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001367479.1",
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys"
}
],
"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
}