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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: 3-186640665-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186640665&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186640665,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014375.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "NM_014375.3",
"protein_id": "NP_055190.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265029.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014375.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000265029.8",
"protein_id": "ENSP00000265029.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014375.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265029.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000450521.5",
"protein_id": "ENSP00000404288.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450521.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000382136.3",
"protein_id": "ENSP00000371571.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 345,
"cds_start": 205,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382136.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000382134.7",
"protein_id": "ENSP00000371569.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382134.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000435961.5",
"protein_id": "ENSP00000393851.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000435961.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898659.1",
"protein_id": "ENSP00000568718.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 404,
"cds_start": 205,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898659.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "NM_001375587.2",
"protein_id": "NP_001362516.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375587.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898653.1",
"protein_id": "ENSP00000568712.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898653.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898654.1",
"protein_id": "ENSP00000568713.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 382,
"cds_start": 205,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898654.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898657.1",
"protein_id": "ENSP00000568716.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 368,
"cds_start": 205,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898657.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "NM_001308077.4",
"protein_id": "NP_001295006.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 345,
"cds_start": 205,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308077.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "NM_001308079.4",
"protein_id": "NP_001295008.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308079.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898652.1",
"protein_id": "ENSP00000568711.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898652.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898655.1",
"protein_id": "ENSP00000568714.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898655.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898656.1",
"protein_id": "ENSP00000568715.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898656.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898658.1",
"protein_id": "ENSP00000568717.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 317,
"cds_start": 205,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898658.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn",
"transcript": "ENST00000898660.1",
"protein_id": "ENSP00000568719.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 262,
"cds_start": 205,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-115G>A",
"hgvs_p": null,
"transcript": "NM_001375588.2",
"protein_id": "NP_001362517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375588.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-152G>A",
"hgvs_p": null,
"transcript": "NM_001375590.2",
"protein_id": "NP_001362519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375590.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-156G>A",
"hgvs_p": null,
"transcript": "NM_001375591.2",
"protein_id": "NP_001362520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375591.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "c.-41G>A",
"hgvs_p": null,
"transcript": "NM_001375592.2",
"protein_id": "NP_001362521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375592.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "FETUB",
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"transcript": "NM_001375589.2",
"protein_id": "NP_001362518.1",
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"aa_length": 234,
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"biotype": "protein_coding",
"feature": "NM_001375589.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"exon_count": 4,
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"gene_symbol": "FETUB",
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"transcript": "ENST00000431018.5",
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"aa_end": null,
"aa_length": 102,
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"cds_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431018.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"hgvs_c": "n.205G>A",
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"transcript": "ENST00000420570.1",
"protein_id": "ENSP00000405438.1",
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"aa_start": null,
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420570.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FETUB",
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"hgvs_c": "n.225G>A",
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"transcript": "ENST00000488561.1",
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"transcript_support_level": 2,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488561.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "HRG-AS1",
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"hgvs_c": "n.388+1289C>T",
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"transcript": "ENST00000625386.2",
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"biotype": "pseudogene",
"feature": "ENST00000625386.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "HRG-AS1",
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"hgvs_c": "n.389+1289C>T",
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"transcript": "ENST00000628505.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000628505.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "HRG-AS1",
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"hgvs_c": "n.239-60699C>T",
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"transcript": "ENST00000630178.2",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000630178.2"
}
],
"gene_symbol": "FETUB",
"gene_hgnc_id": 3658,
"dbsnp": "rs146913398",
"frequency_reference_population": 0.0001728706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 279,
"gnomad_exomes_af": 0.000178565,
"gnomad_genomes_af": 0.000118211,
"gnomad_exomes_ac": 261,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0870751142501831,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1037,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.993,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014375.3",
"gene_symbol": "FETUB",
"hgnc_id": 3658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Asp69Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000625386.2",
"gene_symbol": "HRG-AS1",
"hgnc_id": 55915,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.388+1289C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}