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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: 7-134447336-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134447336&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134447336,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001628.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "NM_001628.4",
"protein_id": "NP_001619.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 316,
"cds_start": 787,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001628.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000285930.9",
"protein_id": "ENSP00000285930.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 316,
"cds_start": 787,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285930.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.1425A>G",
"hgvs_p": null,
"transcript": "ENST00000465351.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000465351.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu",
"transcript": "ENST00000971768.1",
"protein_id": "ENSP00000641827.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 325,
"cds_start": 787,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971768.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Lys268Glu",
"transcript": "ENST00000916187.1",
"protein_id": "ENSP00000586246.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 321,
"cds_start": 802,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916187.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Lys261Glu",
"transcript": "ENST00000916181.1",
"protein_id": "ENSP00000586240.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 314,
"cds_start": 781,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916181.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Lys255Glu",
"transcript": "ENST00000971767.1",
"protein_id": "ENSP00000641826.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 308,
"cds_start": 763,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971767.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Lys254Glu",
"transcript": "ENST00000896051.1",
"protein_id": "ENSP00000566110.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 307,
"cds_start": 760,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896051.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.757A>G",
"hgvs_p": "p.Lys253Glu",
"transcript": "ENST00000916185.1",
"protein_id": "ENSP00000586244.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 306,
"cds_start": 757,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916185.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Lys240Glu",
"transcript": "ENST00000896049.1",
"protein_id": "ENSP00000566108.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 293,
"cds_start": 718,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896049.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Lys240Glu",
"transcript": "ENST00000916179.1",
"protein_id": "ENSP00000586238.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 293,
"cds_start": 718,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916179.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Lys237Glu",
"transcript": "ENST00000916182.1",
"protein_id": "ENSP00000586241.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 290,
"cds_start": 709,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916182.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Lys224Glu",
"transcript": "ENST00000916180.1",
"protein_id": "ENSP00000586239.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 277,
"cds_start": 670,
"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": "ENST00000916180.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Lys222Glu",
"transcript": "ENST00000896052.1",
"protein_id": "ENSP00000566111.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 275,
"cds_start": 664,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896052.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Lys213Glu",
"transcript": "ENST00000896050.1",
"protein_id": "ENSP00000566109.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 266,
"cds_start": 637,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896050.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.634A>G",
"hgvs_p": "p.Lys212Glu",
"transcript": "ENST00000971769.1",
"protein_id": "ENSP00000641828.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 265,
"cds_start": 634,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971769.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.598A>G",
"hgvs_p": "p.Lys200Glu",
"transcript": "ENST00000916190.1",
"protein_id": "ENSP00000586249.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 253,
"cds_start": 598,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916190.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Lys198Glu",
"transcript": "ENST00000916186.1",
"protein_id": "ENSP00000586245.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 251,
"cds_start": 592,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916186.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Lys142Glu",
"transcript": "ENST00000916183.1",
"protein_id": "ENSP00000586242.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 195,
"cds_start": 424,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916183.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Lys119Glu",
"transcript": "NM_001346142.1",
"protein_id": "NP_001333071.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 172,
"cds_start": 355,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346142.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.301A>G",
"hgvs_p": "p.Lys101Glu",
"transcript": "ENST00000916184.1",
"protein_id": "ENSP00000586243.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 154,
"cds_start": 301,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916184.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Lys94Glu",
"transcript": "ENST00000916189.1",
"protein_id": "ENSP00000586248.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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],
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"exon_count": 9,
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"gene_symbol": "AKR1B1",
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"transcript": "ENST00000896053.1",
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"biotype": "protein_coding",
"feature": "ENST00000896053.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-2016A>G",
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"transcript": "ENST00000916191.1",
"protein_id": "ENSP00000586250.1",
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"aa_end": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000916191.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "AKR1B1",
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"transcript": "ENST00000434222.5",
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"feature": "ENST00000434222.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "AKR1B1",
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"transcript": "ENST00000467251.1",
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"biotype": "retained_intron",
"feature": "ENST00000467251.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
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"gene_symbol": "AKR1B1",
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"hgvs_c": "n.1423A>G",
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"transcript": "NR_144376.2",
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144376.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.*514A>G",
"hgvs_p": null,
"transcript": "ENST00000434222.5",
"protein_id": "ENSP00000414399.1",
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"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": "ENST00000434222.5"
}
],
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"dbsnp": "rs201921941",
"frequency_reference_population": 0.00009789489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 158,
"gnomad_exomes_af": 0.0000964539,
"gnomad_genomes_af": 0.000111741,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6951450705528259,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.514,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9904,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.987,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001628.4",
"gene_symbol": "AKR1B1",
"hgnc_id": 381,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Lys263Glu"
}
],
"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
}