← 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: 7-87406393-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87406393&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_018849.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000443.4",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649586.2",
"protein_coding": true,
"protein_id": "NP_000434.1",
"strand": false,
"transcript": "NM_000443.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 3434,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000649586.2",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000443.4",
"protein_coding": true,
"protein_id": "ENSP00000496956.2",
"strand": false,
"transcript": "ENST00000649586.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 3514,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000265723.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265723.4",
"strand": false,
"transcript": "ENST00000265723.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 3465,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000359206.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352135.3",
"strand": false,
"transcript": "ENST00000359206.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 3455,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_018849.3",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061337.1",
"strand": false,
"transcript": "NM_018849.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866031.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536090.1",
"strand": false,
"transcript": "ENST00000866031.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000866032.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536091.1",
"strand": false,
"transcript": "ENST00000866032.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 3719,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000964815.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634874.1",
"strand": false,
"transcript": "ENST00000964815.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 3416,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000866024.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536083.1",
"strand": false,
"transcript": "ENST00000866024.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 3552,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866035.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536094.1",
"strand": false,
"transcript": "ENST00000866035.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "A",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3360,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000866029.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3360C>T",
"hgvs_p": "p.Ala1120Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536088.1",
"strand": false,
"transcript": "ENST00000866029.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "A",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 3334,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3297,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000964820.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3297C>T",
"hgvs_p": "p.Ala1099Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634879.1",
"strand": false,
"transcript": "ENST00000964820.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 3735,
"cds_start": 3276,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866028.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3276C>T",
"hgvs_p": "p.Ala1092Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536087.1",
"strand": false,
"transcript": "ENST00000866028.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "A",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 3286,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866034.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Ala1087Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536093.1",
"strand": false,
"transcript": "ENST00000866034.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "A",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000964819.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Ala1087Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634878.1",
"strand": false,
"transcript": "ENST00000964819.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "A",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 3432,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964821.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Ala1087Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634880.1",
"strand": false,
"transcript": "ENST00000964821.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "A",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 3481,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3252,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000964816.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Ala1084Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634875.1",
"strand": false,
"transcript": "ENST00000964816.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "A",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 3293,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3240,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_018850.3",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3240C>T",
"hgvs_p": "p.Ala1080Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061338.1",
"strand": false,
"transcript": "NM_018850.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "A",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 3240,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3240,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000453593.5",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3240C>T",
"hgvs_p": "p.Ala1080Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392983.1",
"strand": false,
"transcript": "ENST00000453593.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "A",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 3657,
"cds_start": 3198,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866022.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3198C>T",
"hgvs_p": "p.Ala1066Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536081.1",
"strand": false,
"transcript": "ENST00000866022.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "A",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 3350,
"cds_end": null,
"cds_length": 3657,
"cds_start": 3198,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964817.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3198C>T",
"hgvs_p": "p.Ala1066Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634876.1",
"strand": false,
"transcript": "ENST00000964817.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "A",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 3221,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3195,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866027.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3195C>T",
"hgvs_p": "p.Ala1065Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536086.1",
"strand": false,
"transcript": "ENST00000866027.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "A",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3189,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000866021.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3189C>T",
"hgvs_p": "p.Ala1063Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536080.1",
"strand": false,
"transcript": "ENST00000866021.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "A",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 3321,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3183,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000964818.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3183C>T",
"hgvs_p": "p.Ala1061Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634877.1",
"strand": false,
"transcript": "ENST00000964818.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "A",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3799,
"cdna_start": 3288,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3135,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000939426.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ala1045Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609485.1",
"strand": false,
"transcript": "ENST00000939426.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "A",
"aa_start": 1028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 3110,
"cds_end": null,
"cds_length": 3543,
"cds_start": 3084,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866033.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3084C>T",
"hgvs_p": "p.Ala1028Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536092.1",
"strand": false,
"transcript": "ENST00000866033.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "A",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 3080,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3054,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866026.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3054C>T",
"hgvs_p": "p.Ala1018Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536085.1",
"strand": false,
"transcript": "ENST00000866026.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3036,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866025.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3036C>T",
"hgvs_p": "p.Ala1012Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536084.1",
"strand": false,
"transcript": "ENST00000866025.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "A",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3015,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866023.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3015C>T",
"hgvs_p": "p.Ala1005Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536082.1",
"strand": false,
"transcript": "ENST00000866023.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "A",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3542,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3006,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866030.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3006C>T",
"hgvs_p": "p.Ala1002Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536089.1",
"strand": false,
"transcript": "ENST00000866030.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "A",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3135,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866020.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ala1045Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536079.1",
"strand": false,
"transcript": "ENST00000866020.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "A",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011516308.4",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ala1134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514610.4",
"strand": false,
"transcript": "XM_011516308.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3644,
"cds_end": null,
"cds_length": 3864,
"cds_start": 3381,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011516309.4",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3381C>T",
"hgvs_p": "p.Ala1127Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514611.4",
"strand": false,
"transcript": "XM_011516309.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "A",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047420475.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Ala1087Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276431.1",
"strand": false,
"transcript": "XM_047420475.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "A",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3135,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047420476.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ala1045Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276432.1",
"strand": false,
"transcript": "XM_047420476.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467079.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.321C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000467079.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XR_007060045.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3665C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060045.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060046.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3560C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060046.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8612,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060047.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3539C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060047.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XR_007060048.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3536C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060048.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8597,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060049.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3524C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060049.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060050.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3503C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060050.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XR_007060051.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3455C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060052.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3350C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060053.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3293C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XR_007060054.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.3293C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060054.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7951,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XR_007060055.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "n.2878C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007060055.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs766402494",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000016731445,
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"gnomad_exomes_ac": 23,
"gnomad_exomes_af": 0.0000157332,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000263418,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.215,
"pos": 87406393,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018849.3"
}
]
}