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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: 3-52212014-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52212014&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52212014,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001304444.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "NM_000688.6",
"protein_id": "NP_000679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "ENST00000484952.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000688.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000484952.6",
"protein_id": "ENSP00000418779.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "NM_000688.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484952.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000310271.6",
"protein_id": "ENSP00000309259.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310271.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000469224.5",
"protein_id": "ENSP00000417719.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469224.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1651-244G>A",
"hgvs_p": null,
"transcript": "NM_001304444.1",
"protein_id": "NP_001291373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1618-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864930.1",
"protein_id": "ENSP00000534989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1618-244G>A",
"hgvs_p": null,
"transcript": "ENST00000930956.1",
"protein_id": "ENSP00000601015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "NM_001304443.1",
"protein_id": "NP_001291372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "NM_199166.2",
"protein_id": "NP_954635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199166.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000394965.6",
"protein_id": "ENSP00000378416.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394965.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864926.1",
"protein_id": "ENSP00000534985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
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"cds_length": 1923,
"cdna_start": null,
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"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864926.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
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"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864931.1",
"protein_id": "ENSP00000534990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864931.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864932.1",
"protein_id": "ENSP00000534991.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864932.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
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"transcript": "ENST00000864933.1",
"protein_id": "ENSP00000534992.1",
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"feature": "ENST00000864933.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864934.1",
"protein_id": "ENSP00000534993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864934.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864939.1",
"protein_id": "ENSP00000534998.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864939.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864944.1",
"protein_id": "ENSP00000535003.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864944.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000942096.1",
"protein_id": "ENSP00000612155.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
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"hgvs_c": "c.1600-244G>A",
"hgvs_p": null,
"transcript": "ENST00000942097.1",
"protein_id": "ENSP00000612156.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
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"hgvs_c": "c.1600-244G>A",
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"transcript": "ENST00000942099.1",
"protein_id": "ENSP00000612158.1",
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"feature": "ENST00000942099.1"
},
{
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"strand": true,
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],
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"gene_symbol": "ALAS1",
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"hgvs_c": "c.1600-244G>A",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000942101.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.1597-244G>A",
"hgvs_p": null,
"transcript": "ENST00000864927.1",
"protein_id": "ENSP00000534986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864927.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
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{
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{
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"downstream_gene_variant"
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"exon_count": 2,
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"gene_symbol": "ENSG00000296921",
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"biotype": "pseudogene",
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],
"gene_symbol": "ALAS1",
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"dbsnp": "rs9813468",
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"hom_count_reference_population": 31,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0113046,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1722,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.567,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001304444.1",
"gene_symbol": "ALAS1",
"hgnc_id": 396,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1651-244G>A",
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},
{
"score": -12,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000743643.1",
"gene_symbol": "ENSG00000296921",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.860C>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}