← Back to variant description
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: 7-87402256-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87402256&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87402256,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018849.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "NM_000443.4",
"protein_id": "NP_000434.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "ENST00000649586.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000443.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "ENST00000649586.2",
"protein_id": "ENSP00000496956.2",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "NM_000443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649586.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "ENST00000265723.8",
"protein_id": "ENSP00000265723.4",
"transcript_support_level": 1,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265723.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "ENST00000359206.8",
"protein_id": "ENSP00000352135.3",
"transcript_support_level": 1,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359206.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "NM_018849.3",
"protein_id": "NP_061337.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018849.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "ENST00000866031.1",
"protein_id": "ENSP00000536090.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3889,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866031.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "ENST00000866032.1",
"protein_id": "ENSP00000536091.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866032.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "ENST00000964815.1",
"protein_id": "ENSP00000634874.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964815.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "ENST00000866024.1",
"protein_id": "ENSP00000536083.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866024.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "ENST00000866035.1",
"protein_id": "ENSP00000536094.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3851,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866035.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3659T>C",
"hgvs_p": "p.Ile1220Thr",
"transcript": "ENST00000866029.1",
"protein_id": "ENSP00000536088.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3685,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866029.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3596T>C",
"hgvs_p": "p.Ile1199Thr",
"transcript": "ENST00000964820.1",
"protein_id": "ENSP00000634879.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964820.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3575T>C",
"hgvs_p": "p.Ile1192Thr",
"transcript": "ENST00000866028.1",
"protein_id": "ENSP00000536087.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3601,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866028.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3560T>C",
"hgvs_p": "p.Ile1187Thr",
"transcript": "ENST00000866034.1",
"protein_id": "ENSP00000536093.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866034.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3560T>C",
"hgvs_p": "p.Ile1187Thr",
"transcript": "ENST00000964819.1",
"protein_id": "ENSP00000634878.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964819.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3560T>C",
"hgvs_p": "p.Ile1187Thr",
"transcript": "ENST00000964821.1",
"protein_id": "ENSP00000634880.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3731,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964821.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3551T>C",
"hgvs_p": "p.Ile1184Thr",
"transcript": "ENST00000964816.1",
"protein_id": "ENSP00000634875.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964816.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3539T>C",
"hgvs_p": "p.Ile1180Thr",
"transcript": "NM_018850.3",
"protein_id": "NP_061338.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018850.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3539T>C",
"hgvs_p": "p.Ile1180Thr",
"transcript": "ENST00000453593.5",
"protein_id": "ENSP00000392983.1",
"transcript_support_level": 5,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453593.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3497T>C",
"hgvs_p": "p.Ile1166Thr",
"transcript": "ENST00000866022.1",
"protein_id": "ENSP00000536081.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3534,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866022.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3497T>C",
"hgvs_p": "p.Ile1166Thr",
"transcript": "ENST00000964817.1",
"protein_id": "ENSP00000634876.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3649,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964817.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3494T>C",
"hgvs_p": "p.Ile1165Thr",
"transcript": "ENST00000866027.1",
"protein_id": "ENSP00000536086.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3520,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866027.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3488T>C",
"hgvs_p": "p.Ile1163Thr",
"transcript": "ENST00000866021.1",
"protein_id": "ENSP00000536080.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3534,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866021.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3482T>C",
"hgvs_p": "p.Ile1161Thr",
"transcript": "ENST00000964818.1",
"protein_id": "ENSP00000634877.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964818.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3434T>C",
"hgvs_p": "p.Ile1145Thr",
"transcript": "ENST00000939426.1",
"protein_id": "ENSP00000609485.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3587,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939426.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3383T>C",
"hgvs_p": "p.Ile1128Thr",
"transcript": "ENST00000866033.1",
"protein_id": "ENSP00000536092.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3383,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866033.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3353T>C",
"hgvs_p": "p.Ile1118Thr",
"transcript": "ENST00000866026.1",
"protein_id": "ENSP00000536085.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866026.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3335T>C",
"hgvs_p": "p.Ile1112Thr",
"transcript": "ENST00000866025.1",
"protein_id": "ENSP00000536084.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3335,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866025.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3314T>C",
"hgvs_p": "p.Ile1105Thr",
"transcript": "ENST00000866023.1",
"protein_id": "ENSP00000536082.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3314,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866023.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3305T>C",
"hgvs_p": "p.Ile1102Thr",
"transcript": "ENST00000866030.1",
"protein_id": "ENSP00000536089.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866030.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3287T>C",
"hgvs_p": "p.Ile1096Thr",
"transcript": "ENST00000866020.1",
"protein_id": "ENSP00000536079.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866020.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.113T>C",
"hgvs_p": "p.Ile38Thr",
"transcript": "ENST00000440025.1",
"protein_id": "ENSP00000395716.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 98,
"cds_start": 113,
"cds_end": null,
"cds_length": 297,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440025.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3701T>C",
"hgvs_p": "p.Ile1234Thr",
"transcript": "XM_011516308.4",
"protein_id": "XP_011514610.4",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516308.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3680T>C",
"hgvs_p": "p.Ile1227Thr",
"transcript": "XM_011516309.4",
"protein_id": "XP_011514611.4",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516309.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3560T>C",
"hgvs_p": "p.Ile1187Thr",
"transcript": "XM_047420475.1",
"protein_id": "XP_047276431.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420475.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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.3434T>C",
"hgvs_p": "p.Ile1145Thr",
"transcript": "XM_047420476.1",
"protein_id": "XP_047276432.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.292T>C",
"hgvs_p": null,
"transcript": "ENST00000467983.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 414,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3964T>C",
"hgvs_p": null,
"transcript": "XR_007060045.1",
"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": 8596,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060045.1"
},
{
"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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3859T>C",
"hgvs_p": null,
"transcript": "XR_007060046.1",
"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": 8633,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060046.1"
},
{
"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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3838T>C",
"hgvs_p": null,
"transcript": "XR_007060047.1",
"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": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3835T>C",
"hgvs_p": null,
"transcript": "XR_007060048.1",
"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": 8609,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060048.1"
},
{
"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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3823T>C",
"hgvs_p": null,
"transcript": "XR_007060049.1",
"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": 8597,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060049.1"
},
{
"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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3802T>C",
"hgvs_p": null,
"transcript": "XR_007060050.1",
"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": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3754T>C",
"hgvs_p": null,
"transcript": "XR_007060051.1",
"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": 8528,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060051.1"
},
{
"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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3649T>C",
"hgvs_p": null,
"transcript": "XR_007060052.1",
"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": 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",
"gene_hgnc_id": 45,
"hgvs_c": "n.3592T>C",
"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.3592T>C",
"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.3177T>C",
"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": "rs768448686",
"frequency_reference_population": 0.0000034205389,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342054,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9481037855148315,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.861,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8316,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.321,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_018849.3",
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.3701T>C",
"hgvs_p": "p.Ile1234Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}