← Back to variant description
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: 9-133670733-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133670733&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133670733,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_007101.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "NM_001134707.2",
"protein_id": "NP_001128179.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134707.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000439388.6",
"protein_id": "ENSP00000403084.1",
"transcript_support_level": 2,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134707.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439388.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000371872.8",
"protein_id": "ENSP00000360938.4",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371872.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2526G>T",
"hgvs_p": "p.Ala842Ala",
"transcript": "ENST00000859366.1",
"protein_id": "ENSP00000529425.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 978,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859366.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2433G>T",
"hgvs_p": "p.Ala811Ala",
"transcript": "ENST00000859363.1",
"protein_id": "ENSP00000529422.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 947,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859363.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2433G>T",
"hgvs_p": "p.Ala811Ala",
"transcript": "ENST00000859364.1",
"protein_id": "ENSP00000529423.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 947,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859364.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2433G>T",
"hgvs_p": "p.Ala811Ala",
"transcript": "ENST00000859370.1",
"protein_id": "ENSP00000529429.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 947,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859370.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Ala789Ala",
"transcript": "ENST00000859367.1",
"protein_id": "ENSP00000529426.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 925,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859367.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "NM_007101.4",
"protein_id": "NP_009032.2",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007101.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859362.1",
"protein_id": "ENSP00000529421.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859362.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859369.1",
"protein_id": "ENSP00000529428.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859369.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859372.1",
"protein_id": "ENSP00000529431.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859372.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859373.1",
"protein_id": "ENSP00000529432.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859373.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859374.1",
"protein_id": "ENSP00000529433.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859374.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "ENST00000859375.1",
"protein_id": "ENSP00000529434.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859375.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2343G>T",
"hgvs_p": "p.Ala781Ala",
"transcript": "ENST00000859365.1",
"protein_id": "ENSP00000529424.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 917,
"cds_start": 2343,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859365.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2262G>T",
"hgvs_p": "p.Ala754Ala",
"transcript": "ENST00000859371.1",
"protein_id": "ENSP00000529430.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 890,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859371.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2241G>T",
"hgvs_p": "p.Ala747Ala",
"transcript": "ENST00000859368.1",
"protein_id": "ENSP00000529427.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 883,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859368.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Ala617Ala",
"transcript": "ENST00000928146.1",
"protein_id": "ENSP00000598205.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 753,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928146.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.630G>T",
"hgvs_p": "p.Ala210Ala",
"transcript": "ENST00000371868.5",
"protein_id": "ENSP00000360934.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 368,
"cds_start": 630,
"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": "ENST00000371868.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "XM_047422894.1",
"protein_id": "XP_047278850.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422894.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "XM_047422895.1",
"protein_id": "XP_047278851.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 918,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422895.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "XM_017014367.2",
"protein_id": "XP_016869856.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 878,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014367.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "XM_047422896.1",
"protein_id": "XP_047278852.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 878,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422896.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala",
"transcript": "XM_047422897.1",
"protein_id": "XP_047278853.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 878,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422897.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.1167G>T",
"hgvs_p": "p.Ala389Ala",
"transcript": "XM_047422898.1",
"protein_id": "XP_047278854.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 525,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "n.2639G>T",
"hgvs_p": null,
"transcript": "XR_001746213.2",
"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": "XR_001746213.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "n.2639G>T",
"hgvs_p": null,
"transcript": "XR_001746216.2",
"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": "XR_001746216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "n.2639G>T",
"hgvs_p": null,
"transcript": "XR_001746217.2",
"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": "XR_001746217.2"
}
],
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"dbsnp": "rs147854817",
"frequency_reference_population": 0.0000020892965,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020893,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.982,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_007101.4",
"gene_symbol": "SARDH",
"hgnc_id": 10536,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2346G>T",
"hgvs_p": "p.Ala782Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}