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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: 7-117138504-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117138504&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117138504,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021908.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "NM_001369598.1",
"protein_id": "NP_001356527.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 577,
"cds_start": 935,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323984.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369598.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000323984.8",
"protein_id": "ENSP00000325673.3",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 577,
"cds_start": 935,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369598.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323984.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000265437.9",
"protein_id": "ENSP00000265437.5",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 585,
"cds_start": 935,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265437.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000393451.7",
"protein_id": "ENSP00000377097.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 554,
"cds_start": 866,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393451.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Ile",
"transcript": "ENST00000393447.8",
"protein_id": "ENSP00000377093.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 534,
"cds_start": 806,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393447.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Ile",
"transcript": "ENST00000393444.7",
"protein_id": "ENSP00000377090.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 511,
"cds_start": 737,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393444.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "n.507C>T",
"hgvs_p": null,
"transcript": "ENST00000489293.5",
"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": "pseudogene",
"feature": "ENST00000489293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.250+5663G>A",
"hgvs_p": null,
"transcript": "ENST00000432541.5",
"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": "pseudogene",
"feature": "ENST00000432541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.252+5663G>A",
"hgvs_p": null,
"transcript": "ENST00000434993.5",
"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": "pseudogene",
"feature": "ENST00000434993.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000903533.1",
"protein_id": "ENSP00000573592.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 609,
"cds_start": 935,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903533.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "NM_021908.3",
"protein_id": "NP_068708.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 585,
"cds_start": 935,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021908.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Thr310Ile",
"transcript": "ENST00000946966.1",
"protein_id": "ENSP00000617025.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 575,
"cds_start": 929,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946966.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "NM_001369601.1",
"protein_id": "NP_001356530.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 572,
"cds_start": 935,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369601.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000393449.5",
"protein_id": "ENSP00000377095.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 572,
"cds_start": 935,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393449.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_001369604.1",
"protein_id": "NP_001356533.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 562,
"cds_start": 866,
"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": "NM_001369604.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Thr260Ile",
"transcript": "ENST00000490039.1",
"protein_id": "ENSP00000419516.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 560,
"cds_start": 779,
"cds_end": null,
"cds_length": 1684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490039.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000446490.5",
"protein_id": "ENSP00000402934.1",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 557,
"cds_start": 866,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446490.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "NM_018412.4",
"protein_id": "NP_060882.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 554,
"cds_start": 866,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018412.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Ile",
"transcript": "ENST00000903532.1",
"protein_id": "ENSP00000573591.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 549,
"cds_start": 866,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903532.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000923796.1",
"protein_id": "ENSP00000593855.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 546,
"cds_start": 935,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923796.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Ile",
"transcript": "NM_001369599.1",
"protein_id": "NP_001356528.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 534,
"cds_start": 806,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369599.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Thr266Ile",
"transcript": "NM_001369602.1",
"protein_id": "NP_001356531.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 531,
"cds_start": 797,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369602.1"
},
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"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.284+5663G>A",
"hgvs_p": null,
"transcript": "NR_002331.3",
"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": "NR_002331.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.284+5663G>A",
"hgvs_p": null,
"transcript": "NR_109981.1",
"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_109981.1"
}
],
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"dbsnp": "rs980558084",
"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": 0.23179244995117188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.201,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.964,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021908.3",
"gene_symbol": "ST7",
"hgnc_id": 11351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432541.5",
"gene_symbol": "ST7-AS2",
"hgnc_id": 16044,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.250+5663G>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
}