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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: 2-27364515-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27364515&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27364515,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318965.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "NM_001034116.2",
"protein_id": "NP_001029288.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 523,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034116.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "ENST00000347454.9",
"protein_id": "ENSP00000233552.6",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 523,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001034116.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347454.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Asn506Ser",
"transcript": "ENST00000451130.6",
"protein_id": "ENSP00000394869.2",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 543,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451130.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "ENST00000445933.6",
"protein_id": "ENSP00000394397.2",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 522,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445933.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*723A>G",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"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": "ENST00000405940.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*723A>G",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"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": "ENST00000405940.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asn513Ser",
"transcript": "ENST00000945158.1",
"protein_id": "ENSP00000615217.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 550,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945158.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Asn507Ser",
"transcript": "NM_001318965.2",
"protein_id": "NP_001305894.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 544,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318965.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Asn507Ser",
"transcript": "ENST00000493344.6",
"protein_id": "ENSP00000429323.1",
"transcript_support_level": 5,
"aa_start": 507,
"aa_end": null,
"aa_length": 544,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493344.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Asn506Ser",
"transcript": "NM_172195.4",
"protein_id": "NP_751945.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 543,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172195.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1493A>G",
"hgvs_p": "p.Asn498Ser",
"transcript": "ENST00000920939.1",
"protein_id": "ENSP00000590998.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 535,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920939.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asn493Ser",
"transcript": "ENST00000945157.1",
"protein_id": "ENSP00000615216.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 530,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945157.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Asn492Ser",
"transcript": "ENST00000945155.1",
"protein_id": "ENSP00000615214.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945155.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "NM_015636.4",
"protein_id": "NP_056451.3",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 522,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015636.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "ENST00000920928.1",
"protein_id": "ENSP00000590987.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 522,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920928.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "ENST00000920929.1",
"protein_id": "ENSP00000590988.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 522,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920929.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Asn484Ser",
"transcript": "ENST00000920931.1",
"protein_id": "ENSP00000590990.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 521,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920931.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Asn484Ser",
"transcript": "ENST00000945153.1",
"protein_id": "ENSP00000615212.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 521,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945153.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1412A>G",
"hgvs_p": "p.Asn471Ser",
"transcript": "NM_001318966.2",
"protein_id": "NP_001305895.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 508,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318966.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1409A>G",
"hgvs_p": "p.Asn470Ser",
"transcript": "ENST00000945152.1",
"protein_id": "ENSP00000615211.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 507,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945152.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Asn455Ser",
"transcript": "NM_001318967.2",
"protein_id": "NP_001305896.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 492,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318967.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Asn455Ser",
"transcript": "ENST00000945151.1",
"protein_id": "ENSP00000615210.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 492,
"cds_start": 1364,
"cds_end": 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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"gene_symbol": "GTF3C2-AS2",
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{
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"transcript": "NR_183839.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"dbsnp": "rs1167111337",
"frequency_reference_population": 0.0000055760283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410426,
"gnomad_genomes_af": 0.0000197163,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9436227083206177,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2449,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.104,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001318965.2",
"gene_symbol": "EIF2B4",
"hgnc_id": 3260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Asn507Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000412749.2",
"gene_symbol": "GTF3C2-AS2",
"hgnc_id": 55699,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-2909T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}