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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: 17-8475831-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8475831&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8475831,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256012.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys",
"transcript": "NM_001256012.3",
"protein_id": "NP_001242941.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5997,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360416.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256012.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys",
"transcript": "ENST00000360416.8",
"protein_id": "ENSP00000353590.4",
"transcript_support_level": 1,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5997,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256012.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360416.8"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5931C>G",
"hgvs_p": "p.Asn1977Lys",
"transcript": "ENST00000379980.8",
"protein_id": "ENSP00000369315.5",
"transcript_support_level": 1,
"aa_start": 1977,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5931,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379980.8"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5904C>G",
"hgvs_p": "p.Asn1968Lys",
"transcript": "ENST00000269243.8",
"protein_id": "ENSP00000269243.4",
"transcript_support_level": 1,
"aa_start": 1968,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5904,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269243.8"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys",
"transcript": "ENST00000686654.1",
"protein_id": "ENSP00000508862.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5997,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686654.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys",
"transcript": "ENST00000688902.1",
"protein_id": "ENSP00000509091.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5997,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688902.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys",
"transcript": "ENST00000693441.1",
"protein_id": "ENSP00000509241.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5997,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693441.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5952C>G",
"hgvs_p": "p.Asn1984Lys",
"transcript": "ENST00000916047.1",
"protein_id": "ENSP00000586106.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5952,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916047.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5952C>G",
"hgvs_p": "p.Asn1984Lys",
"transcript": "ENST00000916051.1",
"protein_id": "ENSP00000586110.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5952,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916051.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5952C>G",
"hgvs_p": "p.Asn1984Lys",
"transcript": "ENST00000916057.1",
"protein_id": "ENSP00000586116.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5952,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916057.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "NM_001375266.1",
"protein_id": "NP_001362195.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375266.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "ENST00000684843.1",
"protein_id": "ENSP00000509695.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684843.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "ENST00000692526.1",
"protein_id": "ENSP00000510471.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692526.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "ENST00000916052.1",
"protein_id": "ENSP00000586111.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916052.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "ENST00000916056.1",
"protein_id": "ENSP00000586115.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916056.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Asn1978Lys",
"transcript": "ENST00000955183.1",
"protein_id": "ENSP00000625242.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5934,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955183.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5931C>G",
"hgvs_p": "p.Asn1977Lys",
"transcript": "NM_001256095.2",
"protein_id": "NP_001243024.1",
"transcript_support_level": null,
"aa_start": 1977,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5931,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256095.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5931C>G",
"hgvs_p": "p.Asn1977Lys",
"transcript": "ENST00000687178.1",
"protein_id": "ENSP00000509748.1",
"transcript_support_level": null,
"aa_start": 1977,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5931,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687178.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5931C>G",
"hgvs_p": "p.Asn1977Lys",
"transcript": "ENST00000916048.1",
"protein_id": "ENSP00000586107.1",
"transcript_support_level": null,
"aa_start": 1977,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5931,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916048.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5904C>G",
"hgvs_p": "p.Asn1968Lys",
"transcript": "NM_005964.5",
"protein_id": "NP_005955.3",
"transcript_support_level": null,
"aa_start": 1968,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5904,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005964.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5904C>G",
"hgvs_p": "p.Asn1968Lys",
"transcript": "ENST00000916044.1",
"protein_id": "ENSP00000586103.1",
"transcript_support_level": null,
"aa_start": 1968,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5904,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916044.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5904C>G",
"hgvs_p": "p.Asn1968Lys",
"transcript": "ENST00000916045.1",
"protein_id": "ENSP00000586104.1",
"transcript_support_level": null,
"aa_start": 1968,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5904,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*5279C>G",
"hgvs_p": null,
"transcript": "ENST00000688497.1",
"protein_id": "ENSP00000509831.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000688497.1"
}
],
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"dbsnp": "rs145902144",
"frequency_reference_population": 0.0000049564637,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410435,
"gnomad_genomes_af": 0.0000131413,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21335676312446594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.073,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001256012.3",
"gene_symbol": "MYH10",
"hgnc_id": 7568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5997C>G",
"hgvs_p": "p.Asn1999Lys"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000581679.1",
"gene_symbol": "NDEL1",
"hgnc_id": 17620,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.417-14416G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}