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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: 8-144106919-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144106919&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144106919,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032272.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "NM_032272.5",
"protein_id": "NP_115648.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "ENST00000322428.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032272.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000322428.10",
"protein_id": "ENSP00000318604.5",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "NM_032272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322428.10"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000876672.1",
"protein_id": "ENSP00000546731.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 295,
"cds_start": 795,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876672.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000534585.5",
"protein_id": "ENSP00000433979.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 286,
"cds_start": 795,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534585.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000876670.1",
"protein_id": "ENSP00000546729.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 286,
"cds_start": 795,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876670.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000876671.1",
"protein_id": "ENSP00000546730.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 286,
"cds_start": 795,
"cds_end": null,
"cds_length": 861,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876671.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.795C>G",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000964344.1",
"protein_id": "ENSP00000634403.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 286,
"cds_start": 795,
"cds_end": null,
"cds_length": 861,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964344.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876667.1",
"protein_id": "ENSP00000546726.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 265,
"cds_start": 705,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876667.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.711C>G",
"hgvs_p": "p.Ser237Arg",
"transcript": "ENST00000876673.1",
"protein_id": "ENSP00000546732.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 258,
"cds_start": 711,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876673.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000532522.5",
"protein_id": "ENSP00000436720.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532522.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000715465.1",
"protein_id": "ENSP00000520454.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715465.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876665.1",
"protein_id": "ENSP00000546724.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876665.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876666.1",
"protein_id": "ENSP00000546725.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876666.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876668.1",
"protein_id": "ENSP00000546727.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876668.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876674.1",
"protein_id": "ENSP00000546733.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876674.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876675.1",
"protein_id": "ENSP00000546734.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876675.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000876676.1",
"protein_id": "ENSP00000546735.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876676.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000964343.1",
"protein_id": "ENSP00000634402.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964343.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000964345.1",
"protein_id": "ENSP00000634404.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964345.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg",
"transcript": "ENST00000964350.1",
"protein_id": "ENSP00000634409.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 256,
"cds_start": 705,
"cds_end": null,
"cds_length": 771,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964350.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.699C>G",
"hgvs_p": "p.Ser233Arg",
"transcript": "ENST00000876669.1",
"protein_id": "ENSP00000546728.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 254,
"cds_start": 699,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876669.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "ENST00000964346.1",
"protein_id": "ENSP00000634405.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 221,
"cds_start": 600,
"cds_end": null,
"cds_length": 666,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
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{
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"hgvs_p": "p.Ser192Arg",
"transcript": "ENST00000964349.1",
"protein_id": "ENSP00000634408.1",
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},
{
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],
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"hgvs_p": "p.Ser53Arg",
"transcript": "ENST00000534811.1",
"protein_id": "ENSP00000436639.1",
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"biotype": "protein_coding",
"feature": "ENST00000534811.1"
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "MAF1",
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},
{
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"intron_variant"
],
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"gene_symbol": "SHARPIN",
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"biotype": "pseudogene",
"feature": "ENST00000533184.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "MAF1",
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"hgvs_c": "c.*38C>G",
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"transcript": "ENST00000527058.1",
"protein_id": "ENSP00000436030.1",
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"biotype": "protein_coding",
"feature": "ENST00000527058.1"
}
],
"gene_symbol": "MAF1",
"gene_hgnc_id": 24966,
"dbsnp": "rs755776322",
"frequency_reference_population": 0.000004597055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000021889,
"gnomad_genomes_af": 0.0000262874,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06587755680084229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.175,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032272.5",
"gene_symbol": "MAF1",
"hgnc_id": 24966,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.705C>G",
"hgvs_p": "p.Ser235Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000533184.1",
"gene_symbol": "SHARPIN",
"hgnc_id": 25321,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.108-1057G>C",
"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
}