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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: 11-62626118-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62626118&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62626118,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198335.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2672G>A",
"hgvs_p": "p.Arg891Gln",
"transcript": "NM_198334.3",
"protein_id": "NP_938148.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 944,
"cds_start": 2672,
"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": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2672G>A",
"hgvs_p": "p.Arg891Gln",
"transcript": "ENST00000356638.8",
"protein_id": "ENSP00000349053.3",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 944,
"cds_start": 2672,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln",
"transcript": "ENST00000346178.8",
"protein_id": "ENSP00000340466.4",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 966,
"cds_start": 2738,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"transcript": "ENST00000540933.5",
"protein_id": "ENSP00000442962.1",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2381,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.*2404G>A",
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.*2404G>A",
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln",
"transcript": "NM_198335.4",
"protein_id": "NP_938149.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 966,
"cds_start": 2738,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2702G>A",
"hgvs_p": "p.Arg901Gln",
"transcript": "ENST00000933202.1",
"protein_id": "ENSP00000603261.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 954,
"cds_start": 2702,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2672G>A",
"hgvs_p": "p.Arg891Gln",
"transcript": "ENST00000933199.1",
"protein_id": "ENSP00000603258.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 944,
"cds_start": 2672,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Arg890Gln",
"transcript": "ENST00000881669.1",
"protein_id": "ENSP00000551728.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 943,
"cds_start": 2669,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2666G>A",
"hgvs_p": "p.Arg889Gln",
"transcript": "ENST00000933200.1",
"protein_id": "ENSP00000603259.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 942,
"cds_start": 2666,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2657G>A",
"hgvs_p": "p.Arg886Gln",
"transcript": "ENST00000881668.1",
"protein_id": "ENSP00000551727.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 939,
"cds_start": 2657,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2642G>A",
"hgvs_p": "p.Arg881Gln",
"transcript": "ENST00000933201.1",
"protein_id": "ENSP00000603260.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 934,
"cds_start": 2642,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2528G>A",
"hgvs_p": "p.Arg843Gln",
"transcript": "ENST00000881670.1",
"protein_id": "ENSP00000551729.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 896,
"cds_start": 2528,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"transcript": "NM_001278192.2",
"protein_id": "NP_001265121.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 852,
"cds_start": 2396,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Arg799Gln",
"transcript": "ENST00000534779.5",
"protein_id": "ENSP00000435306.1",
"transcript_support_level": 2,
"aa_start": 799,
"aa_end": null,
"aa_length": 852,
"cds_start": 2396,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"transcript": "NM_001278194.2",
"protein_id": "NP_001265123.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2381,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"transcript": "NM_001329222.2",
"protein_id": "NP_001316151.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2381,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"transcript": "NM_001329223.2",
"protein_id": "NP_001316152.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2381,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"transcript": "ENST00000648273.1",
"protein_id": "ENSP00000497655.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2381,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777Gln",
"transcript": "NM_001278193.2",
"protein_id": "NP_001265122.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 830,
"cds_start": 2330,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777Gln",
"transcript": "ENST00000933198.1",
"protein_id": "ENSP00000603257.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 830,
"cds_start": 2330,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2252G>A",
"hgvs_p": "p.Arg751Gln",
"transcript": "ENST00000933203.1",
"protein_id": "ENSP00000603262.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 804,
"cds_start": 2252,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650Gln",
"transcript": "NM_001329224.2",
"protein_id": "NP_001316153.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 703,
"cds_start": 1949,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650Gln",
"transcript": "NM_001329225.2",
"protein_id": "NP_001316154.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 703,
"cds_start": 1949,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"transcript": "XM_047426649.1",
"protein_id": "XP_047282605.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 869,
"cds_start": 2447,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GANAB",
"gene_hgnc_id": 4138,
"hgvs_c": "n.361G>A",
"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": "rs775692598",
"frequency_reference_population": 0.000048949205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000465203,
"gnomad_genomes_af": 0.0000722781,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.541709303855896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.624,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.577,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198335.4",
"gene_symbol": "GANAB",
"hgnc_id": 4138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln"
}
],
"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
}