← 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: 1-225381539-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225381539&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225381539,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000682510.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.13037T>C",
"hgvs_p": "p.Phe4346Ser",
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": 4346,
"aa_end": null,
"aa_length": 4617,
"cds_start": 13037,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 13231,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.13037T>C",
"hgvs_p": "p.Phe4346Ser",
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": 4346,
"aa_end": null,
"aa_length": 4617,
"cds_start": 13037,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 13231,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.*1248T>C",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.*1248T>C",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12731T>C",
"hgvs_p": "p.Phe4244Ser",
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": 4244,
"aa_end": null,
"aa_length": 4515,
"cds_start": 12731,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 12946,
"cdna_end": null,
"cdna_length": 13763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12731T>C",
"hgvs_p": "p.Phe4244Ser",
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": 4244,
"aa_end": null,
"aa_length": 4515,
"cds_start": 12731,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 12731,
"cdna_end": null,
"cdna_length": 13548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.9707T>C",
"hgvs_p": "p.Phe3236Ser",
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": 3236,
"aa_end": null,
"aa_length": 3507,
"cds_start": 9707,
"cds_end": null,
"cds_length": 10524,
"cdna_start": 9707,
"cdna_end": null,
"cdna_length": 10524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.13034T>C",
"hgvs_p": "p.Phe4345Ser",
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": 4345,
"aa_end": null,
"aa_length": 4616,
"cds_start": 13034,
"cds_end": null,
"cds_length": 13851,
"cdna_start": 13249,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12989T>C",
"hgvs_p": "p.Phe4330Ser",
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": 4330,
"aa_end": null,
"aa_length": 4601,
"cds_start": 12989,
"cds_end": null,
"cds_length": 13806,
"cdna_start": 13204,
"cdna_end": null,
"cdna_length": 14038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12962T>C",
"hgvs_p": "p.Phe4321Ser",
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 4321,
"aa_end": null,
"aa_length": 4592,
"cds_start": 12962,
"cds_end": null,
"cds_length": 13779,
"cdna_start": 13177,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12944T>C",
"hgvs_p": "p.Phe4315Ser",
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": 4315,
"aa_end": null,
"aa_length": 4586,
"cds_start": 12944,
"cds_end": null,
"cds_length": 13761,
"cdna_start": 13159,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12938T>C",
"hgvs_p": "p.Phe4313Ser",
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": 4313,
"aa_end": null,
"aa_length": 4584,
"cds_start": 12938,
"cds_end": null,
"cds_length": 13755,
"cdna_start": 13153,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12932T>C",
"hgvs_p": "p.Phe4311Ser",
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": 4311,
"aa_end": null,
"aa_length": 4582,
"cds_start": 12932,
"cds_end": null,
"cds_length": 13749,
"cdna_start": 13147,
"cdna_end": null,
"cdna_length": 13981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12920T>C",
"hgvs_p": "p.Phe4307Ser",
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": 4307,
"aa_end": null,
"aa_length": 4578,
"cds_start": 12920,
"cds_end": null,
"cds_length": 13737,
"cdna_start": 13135,
"cdna_end": null,
"cdna_length": 13969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12881T>C",
"hgvs_p": "p.Phe4294Ser",
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": 4294,
"aa_end": null,
"aa_length": 4565,
"cds_start": 12881,
"cds_end": null,
"cds_length": 13698,
"cdna_start": 13096,
"cdna_end": null,
"cdna_length": 13930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12878T>C",
"hgvs_p": "p.Phe4293Ser",
"transcript": "XM_011544063.3",
"protein_id": "XP_011542365.1",
"transcript_support_level": null,
"aa_start": 4293,
"aa_end": null,
"aa_length": 4564,
"cds_start": 12878,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 13093,
"cdna_end": null,
"cdna_length": 13927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12869T>C",
"hgvs_p": "p.Phe4290Ser",
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": 4290,
"aa_end": null,
"aa_length": 4561,
"cds_start": 12869,
"cds_end": null,
"cds_length": 13686,
"cdna_start": 13084,
"cdna_end": null,
"cdna_length": 13918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12845T>C",
"hgvs_p": "p.Phe4282Ser",
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
"transcript_support_level": null,
"aa_start": 4282,
"aa_end": null,
"aa_length": 4553,
"cds_start": 12845,
"cds_end": null,
"cds_length": 13662,
"cdna_start": 13060,
"cdna_end": null,
"cdna_length": 13894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12821T>C",
"hgvs_p": "p.Phe4274Ser",
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": 4274,
"aa_end": null,
"aa_length": 4545,
"cds_start": 12821,
"cds_end": null,
"cds_length": 13638,
"cdna_start": 13036,
"cdna_end": null,
"cdna_length": 13870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12809T>C",
"hgvs_p": "p.Phe4270Ser",
"transcript": "XM_011544067.3",
"protein_id": "XP_011542369.1",
"transcript_support_level": null,
"aa_start": 4270,
"aa_end": null,
"aa_length": 4541,
"cds_start": 12809,
"cds_end": null,
"cds_length": 13626,
"cdna_start": 13024,
"cdna_end": null,
"cdna_length": 13858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.13037T>C",
"hgvs_p": "p.Phe4346Ser",
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
"transcript_support_level": null,
"aa_start": 4346,
"aa_end": null,
"aa_length": 4504,
"cds_start": 13037,
"cds_end": null,
"cds_length": 13515,
"cdna_start": 13252,
"cdna_end": null,
"cdna_length": 13805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12683T>C",
"hgvs_p": "p.Phe4228Ser",
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
"aa_start": 4228,
"aa_end": null,
"aa_length": 4499,
"cds_start": 12683,
"cds_end": null,
"cds_length": 13500,
"cdna_start": 12898,
"cdna_end": null,
"cdna_length": 13732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12659T>C",
"hgvs_p": "p.Phe4220Ser",
"transcript": "XM_011544070.3",
"protein_id": "XP_011542372.1",
"transcript_support_level": null,
"aa_start": 4220,
"aa_end": null,
"aa_length": 4491,
"cds_start": 12659,
"cds_end": null,
"cds_length": 13476,
"cdna_start": 12874,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12509T>C",
"hgvs_p": "p.Phe4170Ser",
"transcript": "XM_011544071.3",
"protein_id": "XP_011542373.1",
"transcript_support_level": null,
"aa_start": 4170,
"aa_end": null,
"aa_length": 4441,
"cds_start": 12509,
"cds_end": null,
"cds_length": 13326,
"cdna_start": 12724,
"cdna_end": null,
"cdna_length": 13558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11720T>C",
"hgvs_p": "p.Phe3907Ser",
"transcript": "XM_011544072.3",
"protein_id": "XP_011542374.1",
"transcript_support_level": null,
"aa_start": 3907,
"aa_end": null,
"aa_length": 4178,
"cds_start": 11720,
"cds_end": null,
"cds_length": 12537,
"cdna_start": 11935,
"cdna_end": null,
"cdna_length": 12769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11285T>C",
"hgvs_p": "p.Phe3762Ser",
"transcript": "XM_011544073.3",
"protein_id": "XP_011542375.1",
"transcript_support_level": null,
"aa_start": 3762,
"aa_end": null,
"aa_length": 4033,
"cds_start": 11285,
"cds_end": null,
"cds_length": 12102,
"cdna_start": 14099,
"cdna_end": null,
"cdna_length": 14933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.10655T>C",
"hgvs_p": "p.Phe3552Ser",
"transcript": "XM_011544074.3",
"protein_id": "XP_011542376.1",
"transcript_support_level": null,
"aa_start": 3552,
"aa_end": null,
"aa_length": 3823,
"cds_start": 10655,
"cds_end": null,
"cds_length": 11472,
"cdna_start": 11336,
"cdna_end": null,
"cdna_length": 12170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.9884T>C",
"hgvs_p": "p.Phe3295Ser",
"transcript": "XM_011544076.2",
"protein_id": "XP_011542378.1",
"transcript_support_level": null,
"aa_start": 3295,
"aa_end": null,
"aa_length": 3566,
"cds_start": 9884,
"cds_end": null,
"cds_length": 10701,
"cdna_start": 9988,
"cdna_end": null,
"cdna_length": 10822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8444T>C",
"hgvs_p": "p.Phe2815Ser",
"transcript": "XM_017000299.2",
"protein_id": "XP_016855788.1",
"transcript_support_level": null,
"aa_start": 2815,
"aa_end": null,
"aa_length": 3086,
"cds_start": 8444,
"cds_end": null,
"cds_length": 9261,
"cdna_start": 8567,
"cdna_end": null,
"cdna_length": 9401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.7595T>C",
"hgvs_p": "p.Phe2532Ser",
"transcript": "XM_011544081.2",
"protein_id": "XP_011542383.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 2803,
"cds_start": 7595,
"cds_end": null,
"cds_length": 8412,
"cdna_start": 7671,
"cdna_end": null,
"cdna_length": 8505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.6617T>C",
"hgvs_p": "p.Phe2206Ser",
"transcript": "XM_047445671.1",
"protein_id": "XP_047301627.1",
"transcript_support_level": null,
"aa_start": 2206,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6617,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 6708,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"dbsnp": "rs950210",
"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": 0.08923259377479553,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.2966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.883,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000682510.1",
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13037T>C",
"hgvs_p": "p.Phe4346Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}