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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: 2-240719196-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240719196&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240719196,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001379631.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244008.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244008.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498729.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.1581C>G",
"hgvs_p": null,
"transcript": "ENST00000460788.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460788.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3607C>G",
"hgvs_p": null,
"transcript": "ENST00000492812.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000492812.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5044C>G",
"hgvs_p": "p.Arg1682Gly",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1894,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675932.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5153C>G",
"hgvs_p": "p.Pro1718Arg",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 1834,
"cds_start": 5153,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675314.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5150C>G",
"hgvs_p": "p.Pro1717Arg",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 1833,
"cds_start": 5150,
"cds_end": null,
"cds_length": 5502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674607.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5126C>G",
"hgvs_p": "p.Pro1709Arg",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448728.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5099C>G",
"hgvs_p": "p.Pro1700Arg",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1700,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5099,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379631.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5075C>G",
"hgvs_p": "p.Pro1692Arg",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675126.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5060C>G",
"hgvs_p": "p.Pro1687Arg",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1803,
"cds_start": 5060,
"cds_end": null,
"cds_length": 5412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674975.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5048C>G",
"hgvs_p": "p.Pro1683Arg",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1799,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404283.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5039C>G",
"hgvs_p": "p.Pro1680Arg",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1796,
"cds_start": 5039,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676050.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379642.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647572.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674664.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674907.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675152.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>G",
"hgvs_p": "p.Pro1675Arg",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675940.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5000C>G",
"hgvs_p": "p.Pro1667Arg",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5000,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379632.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>G",
"hgvs_p": "p.Pro1666Arg",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379633.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
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"cds_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674793.2"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
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"exon_count": 50,
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"intron_rank_end": null,
"gene_symbol": "KIF1A",
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"hgvs_c": "n.*311C>G",
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"transcript": "ENST00000675644.2",
"protein_id": "ENSP00000502435.2",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675644.2"
}
],
"gene_symbol": "KIF1A",
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"dbsnp": "rs779705838",
"frequency_reference_population": 6.8895764e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88958e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8097554445266724,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.593,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379631.1",
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5099C>G",
"hgvs_p": "p.Pro1700Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}