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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: 1-167518439-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167518439&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167518439,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000362089.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_198053.3",
"protein_id": "NP_932170.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 27,
"cds_end": null,
"cds_length": 495,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "ENST00000362089.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000362089.10",
"protein_id": "ENSP00000354782.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 27,
"cds_end": null,
"cds_length": 495,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "NM_198053.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000392122.4",
"protein_id": "ENSP00000375969.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 163,
"cds_start": 27,
"cds_end": null,
"cds_length": 492,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000700105.1",
"protein_id": "ENSP00000514800.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 27,
"cds_end": null,
"cds_length": 690,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000700142.1",
"protein_id": "ENSP00000514823.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 198,
"cds_start": 27,
"cds_end": null,
"cds_length": 597,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001378515.1",
"protein_id": "NP_001365444.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 195,
"cds_start": 27,
"cds_end": null,
"cds_length": 588,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_001378516.1",
"protein_id": "NP_001365445.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 194,
"cds_start": 27,
"cds_end": null,
"cds_length": 585,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "NM_000734.4",
"protein_id": "NP_000725.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 163,
"cds_start": 27,
"cds_end": null,
"cds_length": 492,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000700165.1",
"protein_id": "ENSP00000514836.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 152,
"cds_start": 27,
"cds_end": null,
"cds_length": 459,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000700159.1",
"protein_id": "ENSP00000514831.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 151,
"cds_start": 27,
"cds_end": null,
"cds_length": 456,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala",
"transcript": "ENST00000700134.1",
"protein_id": "ENSP00000514822.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 136,
"cds_start": 27,
"cds_end": null,
"cds_length": 411,
"cdna_start": 100,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000479979.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"transcript": "ENST00000483825.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"transcript": "ENST00000700111.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 561,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000700113.1",
"protein_id": "ENSP00000514838.1",
"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": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.152G>A",
"hgvs_p": null,
"transcript": "ENST00000700139.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000700140.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000700141.1",
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.27G>A",
"hgvs_p": null,
"transcript": "ENST00000700167.1",
"protein_id": "ENSP00000514837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-95G>A",
"hgvs_p": null,
"transcript": "ENST00000700106.1",
"protein_id": "ENSP00000514802.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-95G>A",
"hgvs_p": null,
"transcript": "ENST00000700107.1",
"protein_id": "ENSP00000514803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-568G>A",
"hgvs_p": null,
"transcript": "ENST00000700109.1",
"protein_id": "ENSP00000514805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-568G>A",
"hgvs_p": null,
"transcript": "ENST00000700108.1",
"protein_id": "ENSP00000514804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-358G>A",
"hgvs_p": null,
"transcript": "ENST00000700160.1",
"protein_id": "ENSP00000514832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-95G>A",
"hgvs_p": null,
"transcript": "XM_011510144.3",
"protein_id": "XP_011508446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.-95G>A",
"hgvs_p": null,
"transcript": "XM_011510145.2",
"protein_id": "XP_011508447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"dbsnp": "rs757294201",
"frequency_reference_population": 0.0000034203376,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342034,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.788,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000362089.10",
"gene_symbol": "CD247",
"hgnc_id": 1677,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Ala9Ala"
}
],
"clinvar_disease": "Immunodeficiency 25",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Immunodeficiency 25",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}