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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: 10-7709047-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=7709047&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 7709047,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002216.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "NM_002216.3",
"protein_id": "NP_002207.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 946,
"cds_start": 218,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358415.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002216.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000358415.9",
"protein_id": "ENSP00000351190.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 946,
"cds_start": 218,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002216.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358415.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899752.1",
"protein_id": "ENSP00000569811.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 946,
"cds_start": 218,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899752.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899753.1",
"protein_id": "ENSP00000569812.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 946,
"cds_start": 218,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899753.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899756.1",
"protein_id": "ENSP00000569815.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 945,
"cds_start": 218,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899756.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899763.1",
"protein_id": "ENSP00000569822.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 944,
"cds_start": 218,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899763.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Tyr62Cys",
"transcript": "ENST00000379587.4",
"protein_id": "ENSP00000368906.3",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 935,
"cds_start": 185,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379587.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899754.1",
"protein_id": "ENSP00000569813.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 911,
"cds_start": 218,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899754.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.110A>G",
"hgvs_p": "p.Tyr37Cys",
"transcript": "ENST00000899755.1",
"protein_id": "ENSP00000569814.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 910,
"cds_start": 110,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899755.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899761.1",
"protein_id": "ENSP00000569820.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 910,
"cds_start": 218,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899761.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899759.1",
"protein_id": "ENSP00000569818.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 908,
"cds_start": 218,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899759.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899760.1",
"protein_id": "ENSP00000569819.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 904,
"cds_start": 218,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899760.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899768.1",
"protein_id": "ENSP00000569827.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 903,
"cds_start": 218,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899768.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899764.1",
"protein_id": "ENSP00000569823.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 900,
"cds_start": 218,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899764.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899757.1",
"protein_id": "ENSP00000569816.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 884,
"cds_start": 218,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899757.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899765.1",
"protein_id": "ENSP00000569824.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 877,
"cds_start": 218,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899765.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899766.1",
"protein_id": "ENSP00000569825.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 862,
"cds_start": 218,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899766.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899758.1",
"protein_id": "ENSP00000569817.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 822,
"cds_start": 218,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899758.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899762.1",
"protein_id": "ENSP00000569821.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 506,
"cds_start": 218,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899762.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Tyr48Cys",
"transcript": "ENST00000429820.5",
"protein_id": "ENSP00000388826.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 236,
"cds_start": 143,
"cds_end": null,
"cds_length": 712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429820.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys",
"transcript": "ENST00000899769.1",
"protein_id": "ENSP00000569828.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 204,
"cds_start": 218,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899769.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "c.84+5529A>G",
"hgvs_p": null,
"transcript": "ENST00000899767.1",
"protein_id": "ENSP00000569826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": null,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "n.307A>G",
"hgvs_p": null,
"transcript": "ENST00000473227.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000473227.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"hgvs_c": "n.259+1814A>G",
"hgvs_p": null,
"transcript": "ENST00000480387.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000480387.1"
}
],
"gene_symbol": "ITIH2",
"gene_hgnc_id": 6167,
"dbsnp": "rs374210001",
"frequency_reference_population": 0.000004337056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410446,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6419084072113037,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.3119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.346,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002216.3",
"gene_symbol": "ITIH2",
"hgnc_id": 6167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Tyr73Cys"
}
],
"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
}