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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: 7-87452957-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87452957&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87452957,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000649586.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "NM_000443.4",
"protein_id": "NP_000434.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1279,
"cds_start": 523,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "ENST00000649586.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "ENST00000649586.2",
"protein_id": "ENSP00000496956.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1279,
"cds_start": 523,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "NM_000443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "ENST00000265723.8",
"protein_id": "ENSP00000265723.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 1286,
"cds_start": 523,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "ENST00000359206.8",
"protein_id": "ENSP00000352135.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 1279,
"cds_start": 523,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.530A>G",
"hgvs_p": null,
"transcript": "ENST00000473795.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "NM_018849.3",
"protein_id": "NP_061337.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1286,
"cds_start": 523,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "NM_018850.3",
"protein_id": "NP_061338.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1232,
"cds_start": 523,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "ENST00000453593.5",
"protein_id": "ENSP00000392983.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 1232,
"cds_start": 523,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_011516308.4",
"protein_id": "XP_011514610.4",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1294,
"cds_start": 523,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_011516309.4",
"protein_id": "XP_011514611.4",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1287,
"cds_start": 523,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_047420475.1",
"protein_id": "XP_047276431.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1247,
"cds_start": 523,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_047420476.1",
"protein_id": "XP_047276432.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1197,
"cds_start": 523,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_047420477.1",
"protein_id": "XP_047276433.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 917,
"cds_start": 523,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.466A>G",
"hgvs_p": null,
"transcript": "ENST00000643670.1",
"protein_id": "ENSP00000496629.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.523A>G",
"hgvs_p": null,
"transcript": "ENST00000644106.1",
"protein_id": "ENSP00000493477.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "XR_001744810.3",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "XR_007060045.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "XR_007060046.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "XR_007060047.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ABCB4",
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"transcript": "XR_007060048.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ABCB4",
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"hgvs_c": "n.786A>G",
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"transcript": "XR_007060049.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.786A>G",
"hgvs_p": null,
"transcript": "XR_007060050.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 8576,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.576A>G",
"hgvs_p": null,
"transcript": "XR_007060051.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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],
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ABCB4",
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"transcript": "XR_007060052.1",
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"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 8423,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 30,
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"gene_symbol": "ABCB4",
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
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"hgvs_c": "n.576A>G",
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"transcript": "XR_007060054.1",
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"transcript_support_level": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": 6722,
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 26,
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"gene_symbol": "ABCB4",
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"hgvs_c": "n.76A>G",
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"transcript": "XR_007060055.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"dbsnp": "rs58238559",
"frequency_reference_population": 0.009334532,
"hom_count_reference_population": 146,
"allele_count_reference_population": 15065,
"gnomad_exomes_af": 0.00935964,
"gnomad_genomes_af": 0.00909354,
"gnomad_exomes_ac": 13680,
"gnomad_genomes_ac": 1385,
"gnomad_exomes_homalt": 134,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011848539113998413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1388,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.089,
"phylop100way_prediction": "Uncertain_significance",
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000649586.2",
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala"
}
],
"clinvar_disease": " 3, intrahepatic, of pregnancy,Cholestasis,Low phospholipid associated cholelithiasis,Progressive familial intrahepatic cholestasis type 3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:6",
"phenotype_combined": "Low phospholipid associated cholelithiasis|not provided|not specified|Progressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}