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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: 9-132878246-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132878246&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132878246,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152572.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "NM_152572.3",
"protein_id": "NP_689785.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 479,
"cds_start": 10,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "ENST00000298545.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152572.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000298545.4",
"protein_id": "ENSP00000298545.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 479,
"cds_start": 10,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": "NM_152572.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298545.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPACA9",
"gene_hgnc_id": 1367,
"hgvs_c": "c.-228T>C",
"hgvs_p": null,
"transcript": "ENST00000372136.7",
"protein_id": "ENSP00000361209.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372136.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000885294.1",
"protein_id": "ENSP00000555353.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 522,
"cds_start": 10,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885294.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000942971.1",
"protein_id": "ENSP00000613030.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 498,
"cds_start": 10,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942971.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000885293.1",
"protein_id": "ENSP00000555352.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 491,
"cds_start": 10,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885293.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000930666.1",
"protein_id": "ENSP00000600725.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 473,
"cds_start": 10,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930666.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000885292.1",
"protein_id": "ENSP00000555351.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 461,
"cds_start": 10,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885292.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "NM_001371772.1",
"protein_id": "NP_001358701.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 434,
"cds_start": 10,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371772.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000885291.1",
"protein_id": "ENSP00000555350.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 434,
"cds_start": 10,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885291.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_005272169.3",
"protein_id": "XP_005272226.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 491,
"cds_start": 10,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272169.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_011518277.3",
"protein_id": "XP_011516579.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 373,
"cds_start": 10,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518277.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_047422821.1",
"protein_id": "XP_047278777.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 361,
"cds_start": 10,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422821.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_047422822.1",
"protein_id": "XP_047278778.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 342,
"cds_start": 10,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-900A>G",
"hgvs_p": null,
"transcript": "NM_001317959.2",
"protein_id": "NP_001304888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317959.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-610A>G",
"hgvs_p": null,
"transcript": "NM_001317958.2",
"protein_id": "NP_001304887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-645A>G",
"hgvs_p": null,
"transcript": "NM_001371774.1",
"protein_id": "NP_001358703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-128A>G",
"hgvs_p": null,
"transcript": "XM_011518278.3",
"protein_id": "XP_011516580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518278.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-4+708A>G",
"hgvs_p": null,
"transcript": "NM_001371771.1",
"protein_id": "NP_001358700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "c.-621+708A>G",
"hgvs_p": null,
"transcript": "NM_001371773.1",
"protein_id": "NP_001358702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.532A>G",
"hgvs_p": null,
"transcript": "ENST00000476719.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK8",
"gene_hgnc_id": 26526,
"hgvs_c": "n.532A>G",
"hgvs_p": null,
"transcript": "ENST00000477396.5",
"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": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477396.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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{
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"canonical": false,
"protein_coding": true,
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],
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"transcript": "ENST00000855798.1",
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"feature": "ENST00000855798.1"
},
{
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],
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"gene_symbol": "SPACA9",
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"transcript": "ENST00000944246.1",
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "SPACA9",
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"transcript": "XM_024447397.2",
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"feature": "XM_024447397.2"
},
{
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"strand": true,
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],
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"gene_symbol": "SPACA9",
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"hgvs_c": "n.-98T>C",
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"transcript": "NR_133631.2",
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"biotype": "pseudogene",
"feature": "NR_133631.2"
}
],
"gene_symbol": "AK8",
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"dbsnp": "rs143313005",
"frequency_reference_population": 0.000033005857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000354389,
"gnomad_genomes_af": 0.0000131475,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0959884524345398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.1113,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.762,
"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": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152572.3",
"gene_symbol": "AK8",
"hgnc_id": 26526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372136.7",
"gene_symbol": "SPACA9",
"hgnc_id": 1367,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-228T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}