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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: 17-81983630-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81983630&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81983630,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001251888.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "NM_024083.4",
"protein_id": "NP_076988.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 553,
"cds_start": 235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024083.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000306739.9",
"protein_id": "ENSP00000302176.4",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 553,
"cds_start": 235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024083.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306739.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.4G>A",
"hgvs_p": null,
"transcript": "ENST00000584454.5",
"protein_id": "ENSP00000463992.1",
"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": "ENST00000584454.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "NM_001251888.2",
"protein_id": "NP_001238817.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 647,
"cds_start": 235,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251888.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000306729.11",
"protein_id": "ENSP00000306625.7",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 647,
"cds_start": 235,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306729.11"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000889826.1",
"protein_id": "ENSP00000559885.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 562,
"cds_start": 262,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889826.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000889830.1",
"protein_id": "ENSP00000559889.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 548,
"cds_start": 235,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889830.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000889828.1",
"protein_id": "ENSP00000559887.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 547,
"cds_start": 235,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889828.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000889825.1",
"protein_id": "ENSP00000559884.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 544,
"cds_start": 208,
"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": "ENST00000889825.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.4G>A",
"hgvs_p": "p.Val2Met",
"transcript": "NM_001330528.2",
"protein_id": "NP_001317457.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 501,
"cds_start": 4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330528.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.4G>A",
"hgvs_p": "p.Val2Met",
"transcript": "ENST00000580534.5",
"protein_id": "ENSP00000462329.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 501,
"cds_start": 4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580534.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000889829.1",
"protein_id": "ENSP00000559888.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 477,
"cds_start": 235,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889829.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000911386.1",
"protein_id": "ENSP00000581445.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 447,
"cds_start": 235,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911386.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000948950.1",
"protein_id": "ENSP00000619009.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 411,
"cds_start": 235,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948950.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000889827.1",
"protein_id": "ENSP00000559886.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 386,
"cds_start": 235,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889827.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "ENST00000581484.5",
"protein_id": "ENSP00000463316.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 306,
"cds_start": 226,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581484.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Val59Met",
"transcript": "ENST00000579684.5",
"protein_id": "ENSP00000461984.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 186,
"cds_start": 175,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579684.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met",
"transcript": "ENST00000581647.5",
"protein_id": "ENSP00000464408.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 182,
"cds_start": 235,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.*121G>A",
"hgvs_p": null,
"transcript": "ENST00000344865.10",
"protein_id": "ENSP00000344020.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000344865.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"transcript": "ENST00000583503.5",
"protein_id": "ENSP00000464044.1",
"transcript_support_level": 3,
"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": "ENST00000583503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.197G>A",
"hgvs_p": null,
"transcript": "NR_045351.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_045351.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.253G>A",
"hgvs_p": null,
"transcript": "XR_001752618.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001752618.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "n.*121G>A",
"hgvs_p": null,
"transcript": "ENST00000344865.10",
"protein_id": "ENSP00000344020.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000344865.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"hgvs_c": "c.*4G>A",
"hgvs_p": null,
"transcript": "ENST00000582019.5",
"protein_id": "ENSP00000463708.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3,
"cds_start": null,
"cds_end": null,
"cds_length": 14,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582019.5"
}
],
"gene_symbol": "ASPSCR1",
"gene_hgnc_id": 13825,
"dbsnp": "rs751926686",
"frequency_reference_population": 0.0000037189375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273683,
"gnomad_genomes_af": 0.0000131735,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7377356290817261,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.333,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.916,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001251888.2",
"gene_symbol": "ASPSCR1",
"hgnc_id": 13825,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Val79Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}