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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: 3-37779975-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37779975&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 37779975,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002207.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914His",
"transcript": "NM_002207.3",
"protein_id": "NP_002198.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": "ENST00000264741.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002207.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914His",
"transcript": "ENST00000264741.10",
"protein_id": "ENSP00000264741.5",
"transcript_support_level": 1,
"aa_start": 914,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": "NM_002207.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264741.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913His",
"transcript": "ENST00000921363.1",
"protein_id": "ENSP00000591422.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 7780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921363.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913His",
"transcript": "ENST00000944256.1",
"protein_id": "ENSP00000614315.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 7855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944256.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2732G>A",
"hgvs_p": "p.Arg911His",
"transcript": "ENST00000944258.1",
"protein_id": "ENSP00000614317.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944258.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884His",
"transcript": "ENST00000944260.1",
"protein_id": "ENSP00000614319.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944260.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2615G>A",
"hgvs_p": "p.Arg872His",
"transcript": "ENST00000944257.1",
"protein_id": "ENSP00000614316.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 993,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944257.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2603G>A",
"hgvs_p": "p.Arg868His",
"transcript": "ENST00000944261.1",
"protein_id": "ENSP00000614320.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 989,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944261.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2600G>A",
"hgvs_p": "p.Arg867His",
"transcript": "ENST00000944259.1",
"protein_id": "ENSP00000614318.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 988,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944259.1"
},
{
"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": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"hgvs_c": "c.2667+2458G>A",
"hgvs_p": null,
"transcript": "ENST00000921364.1",
"protein_id": "ENSP00000591423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": null,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921364.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.603+10868C>T",
"hgvs_p": null,
"transcript": "ENST00000420870.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000420870.6"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.215-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000438136.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000438136.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.60-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000630762.3",
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000630762.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.336-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000653023.1",
"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": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000653023.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.238-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000653285.1",
"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": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000653285.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.38-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000653850.1",
"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": 522,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000653850.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.225-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000655095.1",
"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": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000655095.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.255-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000660790.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000660790.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.155-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000661580.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661580.1"
},
{
"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": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.152-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000663533.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3917,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663533.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.199-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000663634.1",
"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": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663634.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ITGA9-AS1",
"gene_hgnc_id": 49668,
"hgvs_c": "n.367-25923C>T",
"hgvs_p": null,
"transcript": "ENST00000667507.1",
"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": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000667507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ITGA9-AS1",
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"hgvs_c": "n.161-25923C>T",
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"transcript": "ENST00000670835.1",
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"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,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000670835.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "ITGA9-AS1",
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"transcript": "ENST00000720827.1",
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"biotype": "pseudogene",
"feature": "ENST00000720827.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ITGA9-AS1",
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"hgvs_c": "n.257-25923C>T",
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"transcript": "NR_110531.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 620,
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"biotype": "pseudogene",
"feature": "NR_110531.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA9",
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"hgvs_c": "c.-41G>A",
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"transcript": "ENST00000411817.2",
"protein_id": "ENSP00000406533.2",
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"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411817.2"
}
],
"gene_symbol": "ITGA9",
"gene_hgnc_id": 6145,
"dbsnp": "rs75329080",
"frequency_reference_population": 0.0004578868,
"hom_count_reference_population": 3,
"allele_count_reference_population": 739,
"gnomad_exomes_af": 0.000438543,
"gnomad_genomes_af": 0.00064356,
"gnomad_exomes_ac": 641,
"gnomad_genomes_ac": 98,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006229192018508911,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.1053,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.378,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002207.3",
"gene_symbol": "ITGA9",
"hgnc_id": 6145,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914His"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000420870.6",
"gene_symbol": "ITGA9-AS1",
"hgnc_id": 49668,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.603+10868C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}