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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: 2-9368435-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9368435&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9368435,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003887.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asn491Ser",
"transcript": "NM_003887.3",
"protein_id": "NP_003878.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1472,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281419.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003887.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asn491Ser",
"transcript": "ENST00000281419.8",
"protein_id": "ENSP00000281419.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1472,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281419.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asn491Ser",
"transcript": "ENST00000315273.4",
"protein_id": "ENSP00000316404.4",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 961,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315273.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asn502Ser",
"transcript": "ENST00000865541.1",
"protein_id": "ENSP00000535600.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1505,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865541.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asn466Ser",
"transcript": "ENST00000938589.1",
"protein_id": "ENSP00000608648.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 981,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938589.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Asn462Ser",
"transcript": "ENST00000865542.1",
"protein_id": "ENSP00000535601.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 977,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865542.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Asn462Ser",
"transcript": "ENST00000938590.1",
"protein_id": "ENSP00000608649.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 977,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938590.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asn491Ser",
"transcript": "NM_001135191.2",
"protein_id": "NP_001128663.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 961,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135191.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Asn505Ser",
"transcript": "XM_011510403.4",
"protein_id": "XP_011508705.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1514,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510403.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asn502Ser",
"transcript": "XM_011510404.3",
"protein_id": "XP_011508706.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1505,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510404.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Asn494Ser",
"transcript": "XM_006711898.2",
"protein_id": "XP_006711961.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1481,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711898.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Asn480Ser",
"transcript": "XM_011510405.4",
"protein_id": "XP_011508707.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 995,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510405.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Asn477Ser",
"transcript": "XM_047446199.1",
"protein_id": "XP_047302155.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 992,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446199.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1406A>G",
"hgvs_p": "p.Asn469Ser",
"transcript": "XM_047446200.1",
"protein_id": "XP_047302156.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 984,
"cds_start": 1406,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446200.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Asn463Ser",
"transcript": "XM_011510406.3",
"protein_id": "XP_011508708.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 978,
"cds_start": 1388,
"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": "XM_011510406.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Asn505Ser",
"transcript": "XM_011510407.3",
"protein_id": "XP_011508709.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 975,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510407.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asn502Ser",
"transcript": "XM_047446201.1",
"protein_id": "XP_047302157.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 972,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446201.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Asn455Ser",
"transcript": "XM_006711901.4",
"protein_id": "XP_006711964.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 970,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711901.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Asn452Ser",
"transcript": "XM_047446202.1",
"protein_id": "XP_047302158.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 967,
"cds_start": 1355,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446202.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Asn494Ser",
"transcript": "XM_006711902.2",
"protein_id": "XP_006711965.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 964,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711902.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1337A>G",
"hgvs_p": "p.Asn446Ser",
"transcript": "XM_047446205.1",
"protein_id": "XP_047302161.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 961,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446205.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Asn505Ser",
"transcript": "XM_011510408.4",
"protein_id": "XP_011508710.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 959,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "ASAP2",
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"protein_id": "XP_047302185.1",
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],
"gene_symbol": "ASAP2",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7453582882881165,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.244,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003887.3",
"gene_symbol": "ASAP2",
"hgnc_id": 2721,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1472A>G",
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],
"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
}