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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: 14-103571695-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103571695&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103571695,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000409074.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "NM_001370595.2",
"protein_id": "NP_001357524.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": "ENST00000409074.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "ENST00000409074.8",
"protein_id": "ENSP00000386485.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": "NM_001370595.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256500",
"gene_hgnc_id": null,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "ENST00000472726.3",
"protein_id": "ENSP00000439065.2",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 719,
"cds_start": 196,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-155C>T",
"hgvs_p": null,
"transcript": "ENST00000476323.5",
"protein_id": "ENSP00000489047.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-155C>T",
"hgvs_p": null,
"transcript": "ENST00000473127.5",
"protein_id": "ENSP00000489380.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-219C>T",
"hgvs_p": null,
"transcript": "ENST00000477116.5",
"protein_id": "ENSP00000489152.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79*",
"transcript": "ENST00000674165.1",
"protein_id": "ENSP00000501341.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 206,
"cds_start": 235,
"cds_end": null,
"cds_length": 621,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "NM_001302653.2",
"protein_id": "NP_001289582.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 177,
"cds_start": 196,
"cds_end": null,
"cds_length": 534,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "ENST00000556253.6",
"protein_id": "ENSP00000451874.2",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 177,
"cds_start": 196,
"cds_end": null,
"cds_length": 534,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*",
"transcript": "NM_001302654.2",
"protein_id": "NP_001289583.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 133,
"cds_start": 196,
"cds_end": null,
"cds_length": 402,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.28C>T",
"hgvs_p": "p.Arg10*",
"transcript": "ENST00000554876.5",
"protein_id": "ENSP00000489308.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 132,
"cds_start": 28,
"cds_end": null,
"cds_length": 399,
"cdna_start": 28,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Arg41*",
"transcript": "ENST00000495778.1",
"protein_id": "ENSP00000451703.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 108,
"cds_start": 121,
"cds_end": null,
"cds_length": 327,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000458117.6",
"protein_id": "ENSP00000408525.2",
"transcript_support_level": 2,
"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": 782,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.*91C>T",
"hgvs_p": null,
"transcript": "ENST00000489117.5",
"protein_id": "ENSP00000451788.1",
"transcript_support_level": 3,
"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": 770,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.162C>T",
"hgvs_p": null,
"transcript": "ENST00000497901.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 694,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.216C>T",
"hgvs_p": null,
"transcript": "ENST00000554625.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 447,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.403C>T",
"hgvs_p": null,
"transcript": "NR_126431.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1402,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.238C>T",
"hgvs_p": null,
"transcript": "NR_126432.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-155C>T",
"hgvs_p": null,
"transcript": "ENST00000476323.5",
"protein_id": "ENSP00000489047.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-155C>T",
"hgvs_p": null,
"transcript": "ENST00000473127.5",
"protein_id": "ENSP00000489380.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "c.-219C>T",
"hgvs_p": null,
"transcript": "ENST00000477116.5",
"protein_id": "ENSP00000489152.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 906,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"hgvs_c": "n.*91C>T",
"hgvs_p": null,
"transcript": "ENST00000489117.5",
"protein_id": "ENSP00000451788.1",
"transcript_support_level": 3,
"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": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.-2+9711C>T",
"hgvs_p": null,
"transcript": "ENST00000557172.5",
"protein_id": "ENSP00000450786.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
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},
{
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "COA8",
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"transcript": "ENST00000492189.5",
"protein_id": "ENSP00000489557.1",
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},
{
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"protein_coding": false,
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"exon_count": 3,
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"gene_symbol": "COA8",
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"hgvs_c": "n.123+8571C>T",
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"transcript": "ENST00000440963.2",
"protein_id": "ENSP00000388067.2",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "COA8",
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"hgvs_c": "n.-61C>T",
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"transcript": "ENST00000474271.1",
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},
{
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"exon_count": 4,
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"gene_symbol": "COA8",
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"hgvs_c": "n.-60C>T",
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"transcript": "ENST00000555660.5",
"protein_id": "ENSP00000450756.1",
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}
],
"gene_symbol": "COA8",
"gene_hgnc_id": 20492,
"dbsnp": "rs587777784",
"frequency_reference_population": 0.000025402316,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000253106,
"gnomad_genomes_af": 0.0000262836,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.843,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000409074.8",
"gene_symbol": "COA8",
"hgnc_id": 20492,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000472726.3",
"gene_symbol": "ENSG00000256500",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66*"
},
{
"score": 8,
"benign_score": 4,
"pathogenic_score": 12,
"criteria": [
"PP3_Strong",
"PP5_Very_Strong",
"BS2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000557172.5",
"gene_symbol": "KLC1",
"hgnc_id": 6387,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-2+9711C>T",
"hgvs_p": null
}
],
"clinvar_disease": " nuclear type 17,Mitochondrial complex IV deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Mitochondrial complex IV deficiency, nuclear type 17|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}