← Back to variant description
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: 2-24204298-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24204298&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24204298,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006277.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys",
"transcript": "NM_006277.3",
"protein_id": "NP_006268.2",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": "ENST00000355123.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006277.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys",
"transcript": "ENST00000355123.9",
"protein_id": "ENSP00000347244.4",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": "NM_006277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355123.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4802A>G",
"hgvs_p": "p.Tyr1601Cys",
"transcript": "ENST00000361999.7",
"protein_id": "ENSP00000354561.2",
"transcript_support_level": 1,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 4841,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361999.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4844A>G",
"hgvs_p": "p.Tyr1615Cys",
"transcript": "ENST00000905943.1",
"protein_id": "ENSP00000576002.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4844,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5381,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905943.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4841A>G",
"hgvs_p": "p.Tyr1614Cys",
"transcript": "NM_001348181.2",
"protein_id": "NP_001335110.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 5216,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348181.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4802A>G",
"hgvs_p": "p.Tyr1601Cys",
"transcript": "NM_019595.4",
"protein_id": "NP_062541.3",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 5068,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019595.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4769A>G",
"hgvs_p": "p.Tyr1590Cys",
"transcript": "ENST00000926830.1",
"protein_id": "ENSP00000596889.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1659,
"cds_start": 4769,
"cds_end": null,
"cds_length": 4980,
"cdna_start": 4947,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926830.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4763A>G",
"hgvs_p": "p.Tyr1588Cys",
"transcript": "NM_001348182.2",
"protein_id": "NP_001335111.1",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4763,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5029,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348182.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4763A>G",
"hgvs_p": "p.Tyr1588Cys",
"transcript": "ENST00000905942.1",
"protein_id": "ENSP00000576001.1",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4763,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5300,
"cdna_end": null,
"cdna_length": 6270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905942.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4763A>G",
"hgvs_p": "p.Tyr1588Cys",
"transcript": "ENST00000926831.1",
"protein_id": "ENSP00000596890.1",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4763,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5261,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926831.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys",
"transcript": "XM_024452930.2",
"protein_id": "XP_024308698.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5027,
"cdna_end": null,
"cdna_length": 6000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452930.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys",
"transcript": "XM_024452931.2",
"protein_id": "XP_024308699.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 6356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452931.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys",
"transcript": "XM_047444582.1",
"protein_id": "XP_047300538.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444582.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4844A>G",
"hgvs_p": "p.Tyr1615Cys",
"transcript": "XM_024452933.2",
"protein_id": "XP_024308701.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4844,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5110,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452933.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4841A>G",
"hgvs_p": "p.Tyr1614Cys",
"transcript": "XM_024452932.2",
"protein_id": "XP_024308700.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 5094,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452932.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4841A>G",
"hgvs_p": "p.Tyr1614Cys",
"transcript": "XM_047444584.1",
"protein_id": "XP_047300540.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 5450,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444584.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4841A>G",
"hgvs_p": "p.Tyr1614Cys",
"transcript": "XM_047444585.1",
"protein_id": "XP_047300541.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 10601,
"cdna_end": null,
"cdna_length": 11574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444585.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4802A>G",
"hgvs_p": "p.Tyr1601Cys",
"transcript": "XM_024452934.2",
"protein_id": "XP_024308702.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 5302,
"cdna_end": null,
"cdna_length": 6275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452934.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4802A>G",
"hgvs_p": "p.Tyr1601Cys",
"transcript": "XM_047444583.1",
"protein_id": "XP_047300539.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 4946,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444583.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4802A>G",
"hgvs_p": "p.Tyr1601Cys",
"transcript": "XM_047444586.1",
"protein_id": "XP_047300542.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444586.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Tyr860Cys",
"transcript": "XM_024452937.2",
"protein_id": "XP_024308705.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 929,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452937.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "n.*252A>G",
"hgvs_p": null,
"transcript": "ENST00000427234.5",
"protein_id": "ENSP00000395682.1",
"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": 974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427234.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "n.601A>G",
"hgvs_p": null,
"transcript": "ENST00000478720.1",
"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": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "n.*252A>G",
"hgvs_p": null,
"transcript": "ENST00000427234.5",
"protein_id": "ENSP00000395682.1",
"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": 974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427234.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "n.*208A>G",
"hgvs_p": null,
"transcript": "ENST00000449392.1",
"protein_id": "ENSP00000411319.1",
"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": 252,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449392.1"
}
],
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"dbsnp": "rs750743467",
"frequency_reference_population": 0.000041726977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.000041727,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7274432182312012,
"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": 0.428,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.66,
"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": 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_006277.3",
"gene_symbol": "ITSN2",
"hgnc_id": 6184,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Tyr1628Cys"
}
],
"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
}