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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: 17-75042224-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75042224&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75042224,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006356.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "NM_006356.3",
"protein_id": "NP_006347.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 609,
"mane_select": "ENST00000301587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006356.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000301587.9",
"protein_id": "ENSP00000301587.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 609,
"mane_select": "NM_006356.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301587.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000344546.8",
"protein_id": "ENSP00000344230.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 137,
"cds_start": 176,
"cds_end": null,
"cds_length": 414,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344546.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCTD2",
"gene_hgnc_id": 21294,
"hgvs_c": "c.-259+6867G>T",
"hgvs_p": null,
"transcript": "ENST00000581589.5",
"protein_id": "ENSP00000464630.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581589.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCTD2",
"gene_hgnc_id": 21294,
"hgvs_c": "n.711+6867G>T",
"hgvs_p": null,
"transcript": "ENST00000584767.5",
"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": 815,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000584767.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000909789.1",
"protein_id": "ENSP00000579848.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909789.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918881.1",
"protein_id": "ENSP00000588940.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918881.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918882.1",
"protein_id": "ENSP00000588941.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918882.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918885.1",
"protein_id": "ENSP00000588944.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918885.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918887.1",
"protein_id": "ENSP00000588946.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918887.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918888.1",
"protein_id": "ENSP00000588947.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918888.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918891.1",
"protein_id": "ENSP00000588950.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918891.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918892.1",
"protein_id": "ENSP00000588951.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918892.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918893.1",
"protein_id": "ENSP00000588952.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 161,
"cds_start": 176,
"cds_end": null,
"cds_length": 486,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918893.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918884.1",
"protein_id": "ENSP00000588943.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 159,
"cds_start": 176,
"cds_end": null,
"cds_length": 480,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918884.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000909788.1",
"protein_id": "ENSP00000579847.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 158,
"cds_start": 176,
"cds_end": null,
"cds_length": 477,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909788.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918889.1",
"protein_id": "ENSP00000588948.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 149,
"cds_start": 176,
"cds_end": null,
"cds_length": 450,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918889.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918886.1",
"protein_id": "ENSP00000588945.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 140,
"cds_start": 176,
"cds_end": null,
"cds_length": 423,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918886.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "NM_001003785.2",
"protein_id": "NP_001003785.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 137,
"cds_start": 176,
"cds_end": null,
"cds_length": 414,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003785.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918883.1",
"protein_id": "ENSP00000588942.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 137,
"cds_start": 176,
"cds_end": null,
"cds_length": 414,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918883.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp",
"transcript": "ENST00000918890.1",
"protein_id": "ENSP00000588949.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 116,
"cds_start": 176,
"cds_end": null,
"cds_length": 351,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "n.176C>A",
"hgvs_p": null,
"transcript": "ENST00000538432.2",
"protein_id": "ENSP00000437996.2",
"transcript_support_level": 3,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000538432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"hgvs_c": "n.187C>A",
"hgvs_p": null,
"transcript": "ENST00000582341.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 979,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582341.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCTD2",
"gene_hgnc_id": 21294,
"hgvs_c": "n.459+6867G>T",
"hgvs_p": null,
"transcript": "ENST00000579242.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCTD2",
"gene_hgnc_id": 21294,
"hgvs_c": "n.525+6867G>T",
"hgvs_p": null,
"transcript": "ENST00000582840.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000582840.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KCTD2",
"gene_hgnc_id": 21294,
"hgvs_c": "n.365+6867G>T",
"hgvs_p": null,
"transcript": "NR_110835.2",
"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": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110835.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RN7SL573P",
"gene_hgnc_id": 46589,
"hgvs_c": "n.*209G>T",
"hgvs_p": null,
"transcript": "ENST00000485340.3",
"protein_id": null,
"transcript_support_level": 6,
"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": 276,
"mane_select": null,
"mane_plus": null,
"biotype": "misc_RNA",
"feature": "ENST00000485340.3"
}
],
"gene_symbol": "ATP5PD",
"gene_hgnc_id": 845,
"dbsnp": "rs147284668",
"frequency_reference_population": 0.00036615602,
"hom_count_reference_population": 0,
"allele_count_reference_population": 591,
"gnomad_exomes_af": 0.000380341,
"gnomad_genomes_af": 0.000229933,
"gnomad_exomes_ac": 556,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1770438849925995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.2985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.947,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006356.3",
"gene_symbol": "ATP5PD",
"hgnc_id": 845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Asp"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000581589.5",
"gene_symbol": "KCTD2",
"hgnc_id": 21294,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-259+6867G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000485340.3",
"gene_symbol": "RN7SL573P",
"hgnc_id": 46589,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*209G>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
}