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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: 2-227051038-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227051038&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227051038,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396625.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "NM_000092.5",
"protein_id": "NP_000083.3",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3089,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": "ENST00000396625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "ENST00000396625.5",
"protein_id": "ENSP00000379866.3",
"transcript_support_level": 5,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3089,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": "NM_000092.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_005246281.4",
"protein_id": "XP_005246338.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3089,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 9878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443228.1",
"protein_id": "XP_047299184.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3089,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 9861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.2981G>C",
"hgvs_p": "p.Gly994Ala",
"transcript": "XM_011510558.3",
"protein_id": "XP_011508860.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2981,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 3281,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_017003297.2",
"protein_id": "XP_016858786.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3089,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 9867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_006712246.4",
"protein_id": "XP_006712309.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1627,
"cds_start": 3089,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510559.3",
"protein_id": "XP_011508861.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3089,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510560.3",
"protein_id": "XP_011508862.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3089,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443241.1",
"protein_id": "XP_047299197.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3089,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443242.1",
"protein_id": "XP_047299198.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1612,
"cds_start": 3089,
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"cdna_start": 3389,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510561.3",
"protein_id": "XP_011508863.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3089,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510562.3",
"protein_id": "XP_011508864.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
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"cds_start": 3089,
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"cdna_start": 3389,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443245.1",
"protein_id": "XP_047299201.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.2534G>C",
"hgvs_p": "p.Gly845Ala",
"transcript": "XM_005246282.4",
"protein_id": "XP_005246339.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1505,
"cds_start": 2534,
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"cdna_start": 2834,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443246.1",
"protein_id": "XP_047299202.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510565.3",
"protein_id": "XP_011508867.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
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"cdna_start": 3389,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510566.3",
"protein_id": "XP_011508868.1",
"transcript_support_level": null,
"aa_start": 1030,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 33,
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"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
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"transcript": "XM_011510567.3",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 33,
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"exon_count": 46,
"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443248.1",
"protein_id": "XP_047299204.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443249.1",
"protein_id": "XP_047299205.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_011510568.3",
"protein_id": "XP_011508870.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
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"cdna_start": 3389,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
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},
{
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},
{
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},
{
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],
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"gene_symbol": "COL4A4",
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},
{
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],
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},
{
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},
{
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],
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "COL4A4",
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"hgvs_c": "c.3052+37G>C",
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"transcript": "XM_011510557.3",
"protein_id": "XP_011508859.1",
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"feature": null
}
],
"gene_symbol": "COL4A4",
"gene_hgnc_id": 2206,
"dbsnp": "rs772699709",
"frequency_reference_population": 0.0000061955257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000061564,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9878997802734375,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.941,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3681,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.805,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000396625.5",
"gene_symbol": "COL4A4",
"hgnc_id": 2206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}