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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: 16-56932266-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56932266&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56932266,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014685.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_014685.4",
"protein_id": "NP_055500.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 391,
"cds_start": 22,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439977.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014685.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000439977.7",
"protein_id": "ENSP00000409555.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 391,
"cds_start": 22,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014685.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439977.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000300302.9",
"protein_id": "ENSP00000300302.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 390,
"cds_start": 22,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300302.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000344114.8",
"protein_id": "ENSP00000340931.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 232,
"cds_start": 22,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344114.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.119G>A",
"hgvs_p": null,
"transcript": "ENST00000570273.5",
"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": "pseudogene",
"feature": "ENST00000570273.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000855548.1",
"protein_id": "ENSP00000525607.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 400,
"cds_start": 22,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855548.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000938506.1",
"protein_id": "ENSP00000608565.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 391,
"cds_start": 22,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938506.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_001010989.3",
"protein_id": "NP_001010989.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 390,
"cds_start": 22,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010989.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000951120.1",
"protein_id": "ENSP00000621179.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 390,
"cds_start": 22,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951120.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000951121.1",
"protein_id": "ENSP00000621180.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 389,
"cds_start": 22,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951121.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_001436349.1",
"protein_id": "NP_001423278.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 379,
"cds_start": 22,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436349.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_001436350.1",
"protein_id": "NP_001423279.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 366,
"cds_start": 22,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436350.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000379792.6",
"protein_id": "ENSP00000369118.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 366,
"cds_start": 22,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379792.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000855547.1",
"protein_id": "ENSP00000525606.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 350,
"cds_start": 22,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855547.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_001436355.1",
"protein_id": "NP_001423284.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 297,
"cds_start": 22,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436355.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "NM_001272103.2",
"protein_id": "NP_001259032.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 275,
"cds_start": 22,
"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": "NM_001272103.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys",
"transcript": "ENST00000855546.1",
"protein_id": "ENSP00000525605.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 233,
"cds_start": 22,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855546.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-1029G>A",
"hgvs_p": null,
"transcript": "NM_001436351.1",
"protein_id": "NP_001423280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436351.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-179G>A",
"hgvs_p": null,
"transcript": "NM_001436352.1",
"protein_id": "NP_001423281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"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": "NM_001436352.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-1027G>A",
"hgvs_p": null,
"transcript": "NM_001436353.1",
"protein_id": "NP_001423282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436353.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-665G>A",
"hgvs_p": null,
"transcript": "NM_001436354.1",
"protein_id": "NP_001423283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436354.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-295G>A",
"hgvs_p": null,
"transcript": "NM_001436356.1",
"protein_id": "NP_001423285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"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": "NM_001436356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"strand": true,
"consequences": [
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{
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{
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"biotype": "retained_intron",
"feature": "ENST00000568676.5"
},
{
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"strand": true,
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],
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"gene_symbol": "HERPUD1",
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{
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"feature": "NR_199163.1"
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{
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"feature": "NR_199164.1"
},
{
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],
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"biotype": "pseudogene",
"feature": "NR_199165.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000307937",
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"biotype": "pseudogene",
"feature": "ENST00000829929.1"
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],
"gene_symbol": "HERPUD1",
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"dbsnp": "rs760284541",
"frequency_reference_population": 0.000004972706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000137305,
"gnomad_genomes_af": 0.0000394285,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2947831153869629,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.2134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.982,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014685.4",
"gene_symbol": "HERPUD1",
"hgnc_id": 13744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Glu8Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000829929.1",
"gene_symbol": "ENSG00000307937",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.690+341C>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
}