← 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: 10-45461380-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45461380&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45461380,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282866.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "NM_001282866.2",
"protein_id": "NP_001269795.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453424.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282866.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "ENST00000453424.7",
"protein_id": "ENSP00000411848.2",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282866.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453424.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000319836.7",
"protein_id": "ENSP00000317087.3",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319836.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000395769.6",
"protein_id": "ENSP00000379116.2",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395769.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "NM_001401645.1",
"protein_id": "NP_001388574.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401645.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "NM_001401646.1",
"protein_id": "NP_001388575.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401646.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "ENST00000855428.1",
"protein_id": "ENSP00000525487.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855428.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "ENST00000855429.1",
"protein_id": "ENSP00000525488.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855429.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "ENST00000855433.1",
"protein_id": "ENSP00000525492.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855433.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "NM_001002266.3",
"protein_id": "NP_001002266.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002266.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "NM_145021.6",
"protein_id": "NP_659458.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145021.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855430.1",
"protein_id": "ENSP00000525489.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855430.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855432.1",
"protein_id": "ENSP00000525491.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855432.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855434.1",
"protein_id": "ENSP00000525493.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855434.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855437.1",
"protein_id": "ENSP00000525495.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855437.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855438.1",
"protein_id": "ENSP00000525497.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855438.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000912271.1",
"protein_id": "ENSP00000582330.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912271.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000912272.1",
"protein_id": "ENSP00000582331.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912272.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000912273.1",
"protein_id": "ENSP00000582332.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912273.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000960530.1",
"protein_id": "ENSP00000630589.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960530.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000855431.1",
"protein_id": "ENSP00000525490.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 202,
"cds_start": 274,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855431.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "XM_011539492.4",
"protein_id": "XP_011537794.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539492.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "XM_047424763.1",
"protein_id": "XP_047280719.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424763.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "XM_047424764.1",
"protein_id": "XP_047280720.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424764.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "XM_047424765.1",
"protein_id": "XP_047280721.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424765.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala",
"transcript": "XM_047424766.1",
"protein_id": "XP_047280722.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 573,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424766.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "XM_011539495.2",
"protein_id": "XP_011537797.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539495.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "XM_047424767.1",
"protein_id": "XP_047280723.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424767.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "XM_047424768.1",
"protein_id": "XP_047280724.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424768.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "XM_047424769.1",
"protein_id": "XP_047280725.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 291,
"cds_start": 274,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.154-2113C>G",
"hgvs_p": null,
"transcript": "ENST00000855435.1",
"protein_id": "ENSP00000525494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.154-2113C>G",
"hgvs_p": null,
"transcript": "ENST00000912270.1",
"protein_id": "ENSP00000582329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.154-2113C>G",
"hgvs_p": null,
"transcript": "ENST00000960531.1",
"protein_id": "ENSP00000630590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "n.825C>G",
"hgvs_p": null,
"transcript": "ENST00000476962.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "n.695C>G",
"hgvs_p": null,
"transcript": "ENST00000602712.2",
"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": "ENST00000602712.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "n.1871C>G",
"hgvs_p": null,
"transcript": "XR_007061947.1",
"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": "XR_007061947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"hgvs_c": "c.*7C>G",
"hgvs_p": null,
"transcript": "ENST00000453980.3",
"protein_id": "ENSP00000396678.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453980.3"
}
],
"gene_symbol": "MARCHF8",
"gene_hgnc_id": 23356,
"dbsnp": "rs3764990",
"frequency_reference_population": 0.000004858041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000485804,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5358971953392029,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.1193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.029,
"phylop100way_prediction": "Pathogenic",
"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": 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_001282866.2",
"gene_symbol": "MARCHF8",
"hgnc_id": 23356,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Pro374Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}