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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: 7-103420728-A-ATC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103420728&ref=A&alt=ATC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103420728,
"ref": "A",
"alt": "ATC",
"effect": "intron_variant",
"transcript": "NM_198999.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "NM_198999.3",
"protein_id": "NP_945350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": null,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306312.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198999.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000306312.8",
"protein_id": "ENSP00000304783.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": null,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198999.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306312.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000393727.5",
"protein_id": "ENSP00000377328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393727.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000393723.2",
"protein_id": "ENSP00000377324.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393723.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000393730.5",
"protein_id": "ENSP00000377331.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000339444.10",
"protein_id": "ENSP00000342396.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339444.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000393735.6",
"protein_id": "ENSP00000377336.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393735.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000356767.8",
"protein_id": "ENSP00000349210.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356767.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "NM_001167962.2",
"protein_id": "NP_001161434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167962.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000432958.6",
"protein_id": "ENSP00000389733.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
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"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432958.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000393729.5",
"protein_id": "ENSP00000377330.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
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"cds_length": 2124,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000393729.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "NM_206883.3",
"protein_id": "NP_996766.1",
"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": "NM_206883.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 4,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "NM_001321787.2",
"protein_id": "NP_001308716.1",
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"cdna_start": null,
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"feature": "NM_001321787.2"
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "SLC26A5",
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"transcript": "NM_206884.3",
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"biotype": "protein_coding",
"feature": "NM_206884.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "NM_206885.3",
"protein_id": "NP_996768.1",
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"biotype": "protein_coding",
"feature": "NM_206885.3"
},
{
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"consequences": [
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],
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.292+8_292+9dupGA",
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"protein_id": "XP_011514472.1",
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"biotype": "protein_coding",
"feature": "XM_011516170.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null,
"transcript": "XM_047420347.1",
"protein_id": "XP_047276303.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047420347.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "n.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000423416.5",
"protein_id": "ENSP00000389018.1",
"transcript_support_level": 2,
"aa_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000423416.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "n.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000445809.5",
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"feature": "ENST00000445809.5"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "n.292+9_292+10insGA",
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"transcript": "ENST00000454864.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454864.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "n.292+9_292+10insGA",
"hgvs_p": null,
"transcript": "ENST00000456463.5",
"protein_id": "ENSP00000395568.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456463.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "n.554+9_554+10insGA",
"hgvs_p": null,
"transcript": "ENST00000487407.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487407.1"
},
{
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"biotype": "pseudogene",
"feature": "NR_120441.1"
},
{
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"strand": false,
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],
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"feature": "NR_120442.1"
},
{
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],
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"exon_count": 15,
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"gene_symbol": "SLC26A5",
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},
{
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"intron_variant"
],
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"exon_count": 18,
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"transcript": "NR_135801.2",
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{
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],
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"feature": "NR_135802.2"
},
{
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],
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"exon_count": 12,
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"gene_symbol": "SLC26A5",
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"transcript": "XR_007060034.1",
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"biotype": "pseudogene",
"feature": "XR_007060034.1"
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],
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"dbsnp": "rs112791865",
"frequency_reference_population": 0.0005619634,
"hom_count_reference_population": 8,
"allele_count_reference_population": 907,
"gnomad_exomes_af": 0.000330444,
"gnomad_genomes_af": 0.00278369,
"gnomad_exomes_ac": 483,
"gnomad_genomes_ac": 424,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.099,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_198999.3",
"gene_symbol": "SLC26A5",
"hgnc_id": 9359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.292+8_292+9dupGA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}