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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: 11-77869729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77869729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77869729,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001392031.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_024684.4",
"protein_id": "NP_078960.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393427.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024684.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "ENST00000393427.7",
"protein_id": "ENSP00000377078.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024684.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393427.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "ENST00000304716.12",
"protein_id": "ENSP00000307254.8",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 147,
"cds_start": 140,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304716.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "ENST00000532481.5",
"protein_id": "ENSP00000433293.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 88,
"cds_start": 140,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532481.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "NM_001392031.1",
"protein_id": "NP_001378960.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001392031.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "NM_001392032.1",
"protein_id": "NP_001378961.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001392032.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "NM_001392033.1",
"protein_id": "NP_001378962.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001392033.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000533193.5",
"protein_id": "ENSP00000436086.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533193.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000905805.1",
"protein_id": "ENSP00000575864.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905805.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000905807.1",
"protein_id": "ENSP00000575866.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905807.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000905812.1",
"protein_id": "ENSP00000575871.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905812.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000931550.1",
"protein_id": "ENSP00000601609.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931550.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000943179.1",
"protein_id": "ENSP00000613238.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943179.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000943180.1",
"protein_id": "ENSP00000613239.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943180.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001316957.3",
"protein_id": "NP_001303886.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 147,
"cds_start": 140,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316957.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001316958.3",
"protein_id": "NP_001303887.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 137,
"cds_start": 140,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316958.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001392034.1",
"protein_id": "NP_001378963.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 137,
"cds_start": 140,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001392034.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "ENST00000527134.5",
"protein_id": "ENSP00000433281.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 137,
"cds_start": 140,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527134.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001316960.2",
"protein_id": "NP_001303889.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316960.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001316961.2",
"protein_id": "NP_001303890.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316961.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001316962.2",
"protein_id": "NP_001303891.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316962.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Pro47Leu",
"transcript": "NM_001363564.2",
"protein_id": "NP_001350493.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 122,
"cds_start": 140,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363564.2"
},
{
"aa_ref": "P",
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"hgvs_c": "n.256C>T",
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"transcript": "NR_133637.3",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_133637.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
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"hgvs_c": "n.298C>T",
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"transcript": "NR_171640.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_171640.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
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"hgvs_c": "n.374C>T",
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"transcript": "NR_171642.1",
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"transcript_support_level": null,
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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": "NR_171642.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "n.256C>T",
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"transcript": "NR_171643.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_171643.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000254459",
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"hgvs_c": "n.111+2423G>A",
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"transcript": "ENST00000525594.1",
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"transcript_support_level": 4,
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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": "ENST00000525594.1"
}
],
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"dbsnp": "rs778154745",
"frequency_reference_population": 0.000005577141,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478948,
"gnomad_genomes_af": 0.0000131413,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7794479131698608,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33000001311302185,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.714,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.835,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.33,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001392031.1",
"gene_symbol": "AAMDC",
"hgnc_id": 30205,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530972.1",
"gene_symbol": "ENSG00000255449",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.363G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000525594.1",
"gene_symbol": "ENSG00000254459",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.111+2423G>A",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_017017923.2",
"gene_symbol": "RSF1",
"hgnc_id": 18118,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.64+2423G>A",
"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
}