← 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: 1-23431036-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23431036&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23431036,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017707.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2636C>A",
"hgvs_p": "p.Pro879Gln",
"transcript": "NM_017707.4",
"protein_id": "NP_060177.2",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 903,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336689.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017707.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2636C>A",
"hgvs_p": "p.Pro879Gln",
"transcript": "ENST00000336689.8",
"protein_id": "ENSP00000338769.3",
"transcript_support_level": 1,
"aa_start": 879,
"aa_end": null,
"aa_length": 903,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017707.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336689.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2705C>A",
"hgvs_p": "p.Pro902Gln",
"transcript": "ENST00000948796.1",
"protein_id": "ENSP00000618855.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 926,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948796.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2699C>A",
"hgvs_p": "p.Pro900Gln",
"transcript": "ENST00000857995.1",
"protein_id": "ENSP00000528054.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 924,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857995.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2624C>A",
"hgvs_p": "p.Pro875Gln",
"transcript": "ENST00000857997.1",
"protein_id": "ENSP00000528056.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 899,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857997.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2609C>A",
"hgvs_p": "p.Pro870Gln",
"transcript": "NM_001143778.2",
"protein_id": "NP_001137250.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 894,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143778.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2609C>A",
"hgvs_p": "p.Pro870Gln",
"transcript": "ENST00000437606.6",
"protein_id": "ENSP00000408826.2",
"transcript_support_level": 2,
"aa_start": 870,
"aa_end": null,
"aa_length": 894,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437606.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2591C>A",
"hgvs_p": "p.Pro864Gln",
"transcript": "ENST00000948797.1",
"protein_id": "ENSP00000618856.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 888,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948797.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2585C>A",
"hgvs_p": "p.Pro862Gln",
"transcript": "ENST00000857996.1",
"protein_id": "ENSP00000528055.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 886,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857996.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2504C>A",
"hgvs_p": "p.Pro835Gln",
"transcript": "ENST00000931115.1",
"protein_id": "ENSP00000601174.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 859,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931115.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2264C>A",
"hgvs_p": "p.Pro755Gln",
"transcript": "ENST00000948795.1",
"protein_id": "ENSP00000618854.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 779,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948795.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2243C>A",
"hgvs_p": "p.Pro748Gln",
"transcript": "ENST00000711427.1",
"protein_id": "ENSP00000518744.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 772,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711427.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.1310C>A",
"hgvs_p": "p.Pro437Gln",
"transcript": "ENST00000465372.6",
"protein_id": "ENSP00000435394.2",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 461,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465372.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.1148C>A",
"hgvs_p": "p.Pro383Gln",
"transcript": "ENST00000495646.5",
"protein_id": "ENSP00000436150.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 407,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495646.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2705C>A",
"hgvs_p": "p.Pro902Gln",
"transcript": "XM_011541755.3",
"protein_id": "XP_011540057.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 926,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541755.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2699C>A",
"hgvs_p": "p.Pro900Gln",
"transcript": "XM_017001685.3",
"protein_id": "XP_016857174.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 924,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001685.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2642C>A",
"hgvs_p": "p.Pro881Gln",
"transcript": "XM_017001686.3",
"protein_id": "XP_016857175.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 905,
"cds_start": 2642,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001686.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Pro859Gln",
"transcript": "XM_017001687.1",
"protein_id": "XP_016857176.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 883,
"cds_start": 2576,
"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": "XM_017001687.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769Gln",
"transcript": "XM_017001688.3",
"protein_id": "XP_016857177.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 793,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001688.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2249C>A",
"hgvs_p": "p.Pro750Gln",
"transcript": "XM_017001689.2",
"protein_id": "XP_016857178.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 774,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001689.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "c.2243C>A",
"hgvs_p": "p.Pro748Gln",
"transcript": "XM_047424481.1",
"protein_id": "XP_047280437.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 772,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*2533C>A",
"hgvs_p": null,
"transcript": "ENST00000492982.6",
"protein_id": "ENSP00000435858.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000492982.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*2287C>A",
"hgvs_p": null,
"transcript": "ENST00000711425.1",
"protein_id": "ENSP00000518742.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000711425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*1971C>A",
"hgvs_p": null,
"transcript": "ENST00000711426.1",
"protein_id": "ENSP00000518743.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000711426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*2533C>A",
"hgvs_p": null,
"transcript": "ENST00000492982.6",
"protein_id": "ENSP00000435858.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000492982.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*2287C>A",
"hgvs_p": null,
"transcript": "ENST00000711425.1",
"protein_id": "ENSP00000518742.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000711425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"hgvs_c": "n.*1971C>A",
"hgvs_p": null,
"transcript": "ENST00000711426.1",
"protein_id": "ENSP00000518743.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000711426.1"
}
],
"gene_symbol": "ASAP3",
"gene_hgnc_id": 14987,
"dbsnp": "rs137927599",
"frequency_reference_population": 0.0002819904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 445,
"gnomad_exomes_af": 0.00022655,
"gnomad_genomes_af": 0.000800861,
"gnomad_exomes_ac": 323,
"gnomad_genomes_ac": 122,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007668018341064453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.465,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.001068246743807,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_017707.4",
"gene_symbol": "ASAP3",
"hgnc_id": 14987,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2636C>A",
"hgvs_p": "p.Pro879Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}