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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: 11-62625819-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62625819&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62625819,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198335.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Arg944Pro",
"transcript": "NM_198334.3",
"protein_id": "NP_938148.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 944,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356638.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198334.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Arg944Pro",
"transcript": "ENST00000356638.8",
"protein_id": "ENSP00000349053.3",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 944,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198334.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356638.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Arg966Pro",
"transcript": "ENST00000346178.8",
"protein_id": "ENSP00000340466.4",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 966,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346178.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "ENST00000540933.5",
"protein_id": "ENSP00000442962.1",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 847,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540933.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.*2563G>C",
"hgvs_p": null,
"transcript": "ENST00000532402.5",
"protein_id": "ENSP00000432181.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532402.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.*2563G>C",
"hgvs_p": null,
"transcript": "ENST00000532402.5",
"protein_id": "ENSP00000432181.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532402.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Arg966Pro",
"transcript": "NM_198335.4",
"protein_id": "NP_938149.2",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 966,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198335.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2861G>C",
"hgvs_p": "p.Arg954Pro",
"transcript": "ENST00000933202.1",
"protein_id": "ENSP00000603261.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 954,
"cds_start": 2861,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933202.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Arg944Pro",
"transcript": "ENST00000933199.1",
"protein_id": "ENSP00000603258.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 944,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933199.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2828G>C",
"hgvs_p": "p.Arg943Pro",
"transcript": "ENST00000881669.1",
"protein_id": "ENSP00000551728.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 943,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881669.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2825G>C",
"hgvs_p": "p.Arg942Pro",
"transcript": "ENST00000933200.1",
"protein_id": "ENSP00000603259.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 942,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933200.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2816G>C",
"hgvs_p": "p.Arg939Pro",
"transcript": "ENST00000881668.1",
"protein_id": "ENSP00000551727.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 939,
"cds_start": 2816,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881668.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2801G>C",
"hgvs_p": "p.Arg934Pro",
"transcript": "ENST00000933201.1",
"protein_id": "ENSP00000603260.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 934,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933201.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2687G>C",
"hgvs_p": "p.Arg896Pro",
"transcript": "ENST00000881670.1",
"protein_id": "ENSP00000551729.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 896,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881670.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "NM_001278192.2",
"protein_id": "NP_001265121.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 852,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278192.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "ENST00000534779.5",
"protein_id": "ENSP00000435306.1",
"transcript_support_level": 2,
"aa_start": 852,
"aa_end": null,
"aa_length": 852,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534779.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "NM_001278194.2",
"protein_id": "NP_001265123.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 847,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278194.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "NM_001329222.2",
"protein_id": "NP_001316151.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 847,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329222.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "NM_001329223.2",
"protein_id": "NP_001316152.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 847,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329223.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "ENST00000648273.1",
"protein_id": "ENSP00000497655.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 847,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648273.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2489G>C",
"hgvs_p": "p.Arg830Pro",
"transcript": "NM_001278193.2",
"protein_id": "NP_001265122.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 830,
"cds_start": 2489,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278193.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2489G>C",
"hgvs_p": "p.Arg830Pro",
"transcript": "ENST00000933198.1",
"protein_id": "ENSP00000603257.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 830,
"cds_start": 2489,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933198.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2411G>C",
"hgvs_p": "p.Arg804Pro",
"transcript": "ENST00000933203.1",
"protein_id": "ENSP00000603262.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 804,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933203.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2108G>C",
"hgvs_p": "p.Arg703Pro",
"transcript": "NM_001329224.2",
"protein_id": "NP_001316153.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 703,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329224.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2108G>C",
"hgvs_p": "p.Arg703Pro",
"transcript": "NM_001329225.2",
"protein_id": "NP_001316154.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 703,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329225.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2606G>C",
"hgvs_p": "p.Arg869Pro",
"transcript": "XM_047426649.1",
"protein_id": "XP_047282605.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 869,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.520G>C",
"hgvs_p": null,
"transcript": "ENST00000528503.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528503.1"
}
],
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"dbsnp": "rs149726248",
"frequency_reference_population": 0.00012865046,
"hom_count_reference_population": 0,
"allele_count_reference_population": 204,
"gnomad_exomes_af": 0.000131839,
"gnomad_genomes_af": 0.0000986051,
"gnomad_exomes_ac": 189,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.355940580368042,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.64,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.668,
"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_198335.4",
"gene_symbol": "GANAB",
"hgnc_id": 4138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Arg966Pro"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}