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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: 2-100964090-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=100964090&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 100964090,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335681.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "NM_002518.4",
"protein_id": "NP_002509.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 824,
"cds_start": 631,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "ENST00000335681.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "ENST00000335681.10",
"protein_id": "ENSP00000338283.5",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 824,
"cds_start": 631,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "NM_002518.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Thr241Ala",
"transcript": "XM_047444503.1",
"protein_id": "XP_047300459.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 854,
"cds_start": 721,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Thr225Ala",
"transcript": "XM_047444504.1",
"protein_id": "XP_047300460.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 838,
"cds_start": 673,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 23123,
"cdna_end": null,
"cdna_length": 26214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_005263953.3",
"protein_id": "XP_005264010.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 824,
"cds_start": 631,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_047444505.1",
"protein_id": "XP_047300461.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 824,
"cds_start": 631,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_047444506.1",
"protein_id": "XP_047300462.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 824,
"cds_start": 631,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Thr181Ala",
"transcript": "XM_011511242.3",
"protein_id": "XP_011509544.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 794,
"cds_start": 541,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Thr181Ala",
"transcript": "XM_047444502.1",
"protein_id": "XP_047300458.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 794,
"cds_start": 541,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_017004214.2",
"protein_id": "XP_016859703.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 778,
"cds_start": 631,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_005263959.3",
"protein_id": "XP_005264016.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 770,
"cds_start": 631,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_047444510.1",
"protein_id": "XP_047300466.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 770,
"cds_start": 631,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Thr181Ala",
"transcript": "XM_047444511.1",
"protein_id": "XP_047300467.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 740,
"cds_start": 541,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_017004216.2",
"protein_id": "XP_016859705.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 724,
"cds_start": 631,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_047444513.1",
"protein_id": "XP_047300469.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 724,
"cds_start": 631,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Thr87Ala",
"transcript": "XM_005263961.5",
"protein_id": "XP_005264018.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 700,
"cds_start": 259,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_011511243.3",
"protein_id": "XP_011509545.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 572,
"cds_start": 631,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 5027,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "n.678A>G",
"hgvs_p": null,
"transcript": "ENST00000486017.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 764,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "n.408A>G",
"hgvs_p": null,
"transcript": "ENST00000492373.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 552,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "n.698A>G",
"hgvs_p": null,
"transcript": "XR_007075420.1",
"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": 3946,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.566-4191A>G",
"hgvs_p": null,
"transcript": "ENST00000448812.5",
"protein_id": "ENSP00000388528.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 774,
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.599-4191A>G",
"hgvs_p": null,
"transcript": "XM_005263960.3",
"protein_id": "XP_005264017.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.599-4191A>G",
"hgvs_p": null,
"transcript": "XM_047444515.1",
"protein_id": "XP_047300471.1",
"transcript_support_level": null,
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{
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{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000335681.10",
"gene_symbol": "NPAS2",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}