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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: 17-68271426-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68271426&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68271426,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004694.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "NM_004694.5",
"protein_id": "NP_004685.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000580666.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004694.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "ENST00000580666.6",
"protein_id": "ENSP00000462985.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004694.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580666.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "ENST00000327268.8",
"protein_id": "ENSP00000319991.4",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327268.8"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "ENST00000448504.6",
"protein_id": "ENSP00000407193.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448504.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "NM_001174166.2",
"protein_id": "NP_001167637.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174166.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "ENST00000957248.1",
"protein_id": "ENSP00000627307.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957248.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "ENST00000957249.1",
"protein_id": "ENSP00000627308.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957249.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Thr264Ile",
"transcript": "XM_024451021.2",
"protein_id": "XP_024306789.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 542,
"cds_start": 791,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451021.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "XM_011525461.4",
"protein_id": "XP_011523763.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525461.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "XM_017025292.3",
"protein_id": "XP_016880781.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025292.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile",
"transcript": "XM_047437020.1",
"protein_id": "XP_047292976.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 523,
"cds_start": 734,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437020.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "NM_014960.5",
"protein_id": "NP_055775.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014960.5"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "NM_001352903.2",
"protein_id": "NP_001339832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352903.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "NM_001352904.2",
"protein_id": "NP_001339833.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352904.2"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435632.1",
"protein_id": "XP_047291588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435632.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435639.1",
"protein_id": "XP_047291595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435639.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435644.1",
"protein_id": "XP_047291600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435644.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435645.1",
"protein_id": "XP_047291601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435647.1",
"protein_id": "XP_047291603.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047435647.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435649.1",
"protein_id": "XP_047291605.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047435649.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435653.1",
"protein_id": "XP_047291609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435653.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null,
"transcript": "XM_047435655.1",
"protein_id": "XP_047291611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
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"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "n.27-2464G>A",
"hgvs_p": null,
"transcript": "ENST00000578726.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000578726.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"hgvs_c": "c.*202C>T",
"hgvs_p": null,
"transcript": "ENST00000583477.5",
"protein_id": "ENSP00000463070.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583477.5"
}
],
"gene_symbol": "SLC16A6",
"gene_hgnc_id": 10927,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26569730043411255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.5926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.126,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004694.5",
"gene_symbol": "SLC16A6",
"hgnc_id": 10927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Thr245Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014960.5",
"gene_symbol": "ARSG",
"hgnc_id": 24102,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-552+12000G>A",
"hgvs_p": null
}
],
"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
}