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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: 14-74286488-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74286488&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74286488,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005050.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1794G>C",
"hgvs_p": "p.Trp598Cys",
"transcript": "NM_005050.4",
"protein_id": "NP_005041.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 606,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356924.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005050.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1794G>C",
"hgvs_p": "p.Trp598Cys",
"transcript": "ENST00000356924.9",
"protein_id": "ENSP00000349396.4",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 606,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356924.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*1495G>C",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000553486.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*1495G>C",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000553486.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1845G>C",
"hgvs_p": "p.Trp615Cys",
"transcript": "ENST00000885459.1",
"protein_id": "ENSP00000555518.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 623,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885459.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1821G>C",
"hgvs_p": "p.Trp607Cys",
"transcript": "ENST00000885453.1",
"protein_id": "ENSP00000555512.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 615,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885453.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1809G>C",
"hgvs_p": "p.Trp603Cys",
"transcript": "ENST00000948605.1",
"protein_id": "ENSP00000618664.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 611,
"cds_start": 1809,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948605.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Trp596Cys",
"transcript": "ENST00000934333.1",
"protein_id": "ENSP00000604392.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 604,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934333.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1743G>C",
"hgvs_p": "p.Trp581Cys",
"transcript": "ENST00000885454.1",
"protein_id": "ENSP00000555513.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885454.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1743G>C",
"hgvs_p": "p.Trp581Cys",
"transcript": "ENST00000885457.1",
"protein_id": "ENSP00000555516.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885457.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1743G>C",
"hgvs_p": "p.Trp581Cys",
"transcript": "ENST00000948607.1",
"protein_id": "ENSP00000618666.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948607.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1728G>C",
"hgvs_p": "p.Trp576Cys",
"transcript": "ENST00000885452.1",
"protein_id": "ENSP00000555511.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 584,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885452.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Trp574Cys",
"transcript": "ENST00000934327.1",
"protein_id": "ENSP00000604386.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 582,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934327.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1677G>C",
"hgvs_p": "p.Trp559Cys",
"transcript": "ENST00000934326.1",
"protein_id": "ENSP00000604385.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 567,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934326.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1677G>C",
"hgvs_p": "p.Trp559Cys",
"transcript": "ENST00000934335.1",
"protein_id": "ENSP00000604394.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 567,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934335.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1671G>C",
"hgvs_p": "p.Trp557Cys",
"transcript": "ENST00000934328.1",
"protein_id": "ENSP00000604387.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 565,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934328.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Trp556Cys",
"transcript": "NM_001353591.2",
"protein_id": "NP_001340520.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 564,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353591.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Trp556Cys",
"transcript": "ENST00000885451.1",
"protein_id": "ENSP00000555510.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 564,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885451.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1665G>C",
"hgvs_p": "p.Trp555Cys",
"transcript": "ENST00000948604.1",
"protein_id": "ENSP00000618663.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 563,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948604.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1617G>C",
"hgvs_p": "p.Trp539Cys",
"transcript": "ENST00000934331.1",
"protein_id": "ENSP00000604390.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 547,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934331.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1596G>C",
"hgvs_p": "p.Trp532Cys",
"transcript": "ENST00000885460.1",
"protein_id": "ENSP00000555519.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 540,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885460.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1533G>C",
"hgvs_p": "p.Trp511Cys",
"transcript": "NM_001353593.2",
"protein_id": "NP_001340522.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 519,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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{
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"protein_coding": false,
"strand": false,
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"transcript": "ENST00000481935.5",
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{
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"canonical": false,
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"strand": true,
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],
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"biotype": "retained_intron",
"feature": "ENST00000465085.2"
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{
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"strand": true,
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"gene_symbol": "ABCD4",
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"hgvs_c": "n.*496G>C",
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"feature": "ENST00000474270.1"
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{
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"strand": true,
"consequences": [
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],
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"exon_count": 16,
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"gene_symbol": "ABCD4",
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"hgvs_c": "n.*1675G>C",
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"transcript": "ENST00000553745.5",
"protein_id": "ENSP00000451778.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000553745.5"
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],
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"dbsnp": "rs773609274",
"frequency_reference_population": 0.0000030976478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205217,
"gnomad_genomes_af": 0.0000131356,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8359705209732056,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9577,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.767,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005050.4",
"gene_symbol": "ABCD4",
"hgnc_id": 68,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1794G>C",
"hgvs_p": "p.Trp598Cys"
}
],
"clinvar_disease": " type cblJ,Methylmalonic acidemia with homocystinuria",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Methylmalonic acidemia with homocystinuria, type cblJ",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}