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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: 7-87402277-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87402277&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87402277,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018849.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"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.3659C>A",
"hgvs_p": "p.Ala1220Asp",
"transcript": "NM_000443.4",
"protein_id": "NP_000434.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3712,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "ENST00000649586.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000443.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3659C>A",
"hgvs_p": "p.Ala1220Asp",
"transcript": "ENST00000649586.2",
"protein_id": "ENSP00000496956.2",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3712,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "NM_000443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649586.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3680C>A",
"hgvs_p": "p.Ala1227Asp",
"transcript": "ENST00000265723.8",
"protein_id": "ENSP00000265723.4",
"transcript_support_level": 1,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265723.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3659C>A",
"hgvs_p": "p.Ala1220Asp",
"transcript": "ENST00000359206.8",
"protein_id": "ENSP00000352135.3",
"transcript_support_level": 1,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359206.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3680C>A",
"hgvs_p": "p.Ala1227Asp",
"transcript": "NM_018849.3",
"protein_id": "NP_061337.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018849.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3680C>A",
"hgvs_p": "p.Ala1227Asp",
"transcript": "ENST00000866031.1",
"protein_id": "ENSP00000536090.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3868,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866031.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3680C>A",
"hgvs_p": "p.Ala1227Asp",
"transcript": "ENST00000866032.1",
"protein_id": "ENSP00000536091.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866032.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3680C>A",
"hgvs_p": "p.Ala1227Asp",
"transcript": "ENST00000964815.1",
"protein_id": "ENSP00000634874.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3997,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964815.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3659C>A",
"hgvs_p": "p.Ala1220Asp",
"transcript": "ENST00000866024.1",
"protein_id": "ENSP00000536083.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866024.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3659C>A",
"hgvs_p": "p.Ala1220Asp",
"transcript": "ENST00000866035.1",
"protein_id": "ENSP00000536094.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866035.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3638C>A",
"hgvs_p": "p.Ala1213Asp",
"transcript": "ENST00000866029.1",
"protein_id": "ENSP00000536088.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866029.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3575C>A",
"hgvs_p": "p.Ala1192Asp",
"transcript": "ENST00000964820.1",
"protein_id": "ENSP00000634879.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964820.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3554C>A",
"hgvs_p": "p.Ala1185Asp",
"transcript": "ENST00000866028.1",
"protein_id": "ENSP00000536087.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3580,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866028.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3539C>A",
"hgvs_p": "p.Ala1180Asp",
"transcript": "ENST00000866034.1",
"protein_id": "ENSP00000536093.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866034.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3539C>A",
"hgvs_p": "p.Ala1180Asp",
"transcript": "ENST00000964819.1",
"protein_id": "ENSP00000634878.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3621,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964819.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3539C>A",
"hgvs_p": "p.Ala1180Asp",
"transcript": "ENST00000964821.1",
"protein_id": "ENSP00000634880.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3710,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964821.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3530C>A",
"hgvs_p": "p.Ala1177Asp",
"transcript": "ENST00000964816.1",
"protein_id": "ENSP00000634875.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964816.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3518C>A",
"hgvs_p": "p.Ala1173Asp",
"transcript": "NM_018850.3",
"protein_id": "NP_061338.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3571,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018850.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3518C>A",
"hgvs_p": "p.Ala1173Asp",
"transcript": "ENST00000453593.5",
"protein_id": "ENSP00000392983.1",
"transcript_support_level": 5,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3518,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453593.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3476C>A",
"hgvs_p": "p.Ala1159Asp",
"transcript": "ENST00000866022.1",
"protein_id": "ENSP00000536081.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866022.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3476C>A",
"hgvs_p": "p.Ala1159Asp",
"transcript": "ENST00000964817.1",
"protein_id": "ENSP00000634876.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964817.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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.3473C>A",
"hgvs_p": "p.Ala1158Asp",
"transcript": "ENST00000866027.1",
"protein_id": "ENSP00000536086.1",
"transcript_support_level": null,
"aa_start": 1158,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8423,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060052.1"
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
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"hgvs_c": "n.3571C>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": 8366,
"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.3571C>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": 6722,
"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.3156C>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": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060055.1"
}
],
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"dbsnp": "rs2116296479",
"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": 0.9111818075180054,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.879,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9771,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.115,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018849.3",
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.3680C>A",
"hgvs_p": "p.Ala1227Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}