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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: 7-87402241-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87402241&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87402241,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018849.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "NM_000443.4",
"protein_id": "NP_000434.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649586.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000443.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "ENST00000649586.2",
"protein_id": "ENSP00000496956.2",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649586.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His",
"transcript": "ENST00000265723.8",
"protein_id": "ENSP00000265723.4",
"transcript_support_level": 1,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265723.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "ENST00000359206.8",
"protein_id": "ENSP00000352135.3",
"transcript_support_level": 1,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359206.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His",
"transcript": "NM_018849.3",
"protein_id": "NP_061337.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018849.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His",
"transcript": "ENST00000866031.1",
"protein_id": "ENSP00000536090.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866031.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His",
"transcript": "ENST00000866032.1",
"protein_id": "ENSP00000536091.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866032.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His",
"transcript": "ENST00000964815.1",
"protein_id": "ENSP00000634874.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "ENST00000866024.1",
"protein_id": "ENSP00000536083.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866024.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "ENST00000866035.1",
"protein_id": "ENSP00000536094.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866035.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3674G>A",
"hgvs_p": "p.Arg1225His",
"transcript": "ENST00000866029.1",
"protein_id": "ENSP00000536088.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3674,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866029.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3611G>A",
"hgvs_p": "p.Arg1204His",
"transcript": "ENST00000964820.1",
"protein_id": "ENSP00000634879.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964820.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3590G>A",
"hgvs_p": "p.Arg1197His",
"transcript": "ENST00000866028.1",
"protein_id": "ENSP00000536087.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192His",
"transcript": "ENST00000866034.1",
"protein_id": "ENSP00000536093.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866034.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192His",
"transcript": "ENST00000964819.1",
"protein_id": "ENSP00000634878.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964819.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192His",
"transcript": "ENST00000964821.1",
"protein_id": "ENSP00000634880.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964821.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3566G>A",
"hgvs_p": "p.Arg1189His",
"transcript": "ENST00000964816.1",
"protein_id": "ENSP00000634875.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964816.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Arg1185His",
"transcript": "NM_018850.3",
"protein_id": "NP_061338.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018850.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Arg1185His",
"transcript": "ENST00000453593.5",
"protein_id": "ENSP00000392983.1",
"transcript_support_level": 5,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453593.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3512G>A",
"hgvs_p": "p.Arg1171His",
"transcript": "ENST00000866022.1",
"protein_id": "ENSP00000536081.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866022.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3512G>A",
"hgvs_p": "p.Arg1171His",
"transcript": "ENST00000964817.1",
"protein_id": "ENSP00000634876.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964817.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170His",
"transcript": "ENST00000866027.1",
"protein_id": "ENSP00000536086.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3509,
"cds_end": null,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3607G>A",
"hgvs_p": null,
"transcript": "XR_007060053.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007060053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3607G>A",
"hgvs_p": null,
"transcript": "XR_007060054.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007060054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3192G>A",
"hgvs_p": null,
"transcript": "XR_007060055.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007060055.1"
}
],
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"dbsnp": "rs1160711086",
"frequency_reference_population": 0.000004337341,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410462,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8245035409927368,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.747,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.752,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018849.3",
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239His"
}
],
"clinvar_disease": " 3, intrahepatic, of pregnancy,Cholestasis,Progressive familial intrahepatic cholestasis type 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Cholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}