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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: 9-96013177-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96013177&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 96013177,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000653738.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4627G>T",
"hgvs_p": "p.Ala1543Ser",
"transcript": "NM_020207.7",
"protein_id": "NP_064592.3",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1550,
"cds_start": 4627,
"cds_end": null,
"cds_length": 4653,
"cdna_start": 4975,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": "ENST00000653738.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4627G>T",
"hgvs_p": "p.Ala1543Ser",
"transcript": "ENST00000653738.2",
"protein_id": "ENSP00000499221.2",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1550,
"cds_start": 4627,
"cds_end": null,
"cds_length": 4653,
"cdna_start": 4975,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": "NM_020207.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3809G>T",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3809G>T",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4660G>T",
"hgvs_p": "p.Ala1554Ser",
"transcript": "ENST00000715566.1",
"protein_id": "ENSP00000520479.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4660,
"cds_end": null,
"cds_length": 4686,
"cdna_start": 4975,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4582G>T",
"hgvs_p": "p.Ala1528Ser",
"transcript": "ENST00000683937.1",
"protein_id": "ENSP00000507442.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4582,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4965,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4507G>T",
"hgvs_p": "p.Ala1503Ser",
"transcript": "XM_011518641.4",
"protein_id": "XP_011516943.1",
"transcript_support_level": null,
"aa_start": 1503,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4507,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 4822,
"cdna_end": null,
"cdna_length": 10092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3766G>T",
"hgvs_p": "p.Ala1256Ser",
"transcript": "XM_047423356.1",
"protein_id": "XP_047279312.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 9198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.2995G>T",
"hgvs_p": "p.Ala999Ser",
"transcript": "XM_011518648.4",
"protein_id": "XP_011516950.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 8386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3110G>T",
"hgvs_p": null,
"transcript": "ENST00000653324.2",
"protein_id": "ENSP00000499453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1285G>T",
"hgvs_p": null,
"transcript": "ENST00000659728.1",
"protein_id": "ENSP00000499575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*2691G>T",
"hgvs_p": null,
"transcript": "ENST00000661047.1",
"protein_id": "ENSP00000499236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.4627G>T",
"hgvs_p": null,
"transcript": "ENST00000682983.1",
"protein_id": "ENSP00000507518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1245G>T",
"hgvs_p": null,
"transcript": "ENST00000683128.1",
"protein_id": "ENSP00000508232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.6435G>T",
"hgvs_p": null,
"transcript": "ENST00000683176.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.6240G>T",
"hgvs_p": null,
"transcript": "ENST00000683227.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.5143G>T",
"hgvs_p": null,
"transcript": "NR_164677.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3110G>T",
"hgvs_p": null,
"transcript": "ENST00000653324.2",
"protein_id": "ENSP00000499453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1285G>T",
"hgvs_p": null,
"transcript": "ENST00000659728.1",
"protein_id": "ENSP00000499575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*2691G>T",
"hgvs_p": null,
"transcript": "ENST00000661047.1",
"protein_id": "ENSP00000499236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1245G>T",
"hgvs_p": null,
"transcript": "ENST00000683128.1",
"protein_id": "ENSP00000508232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3674+8476G>T",
"hgvs_p": null,
"transcript": "NM_001375291.1",
"protein_id": "NP_001362220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": -4,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3674+8476G>T",
"hgvs_p": null,
"transcript": "NM_001375292.1",
"protein_id": "NP_001362221.1",
"transcript_support_level": null,
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{
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{
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}