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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: 6-97173064-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97173064&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 97173064,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_198468.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "NM_001350599.2",
"protein_id": "NP_001337528.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683635.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350599.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000683635.1",
"protein_id": "ENSP00000508046.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350599.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683635.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "NM_198468.4",
"protein_id": "NP_940870.2",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198468.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000275053.8",
"protein_id": "ENSP00000275053.4",
"transcript_support_level": 2,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275053.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000929352.1",
"protein_id": "ENSP00000599411.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929352.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000929353.1",
"protein_id": "ENSP00000599412.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929353.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "ENST00000369251.6",
"protein_id": "ENSP00000358254.2",
"transcript_support_level": 2,
"aa_start": 906,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369251.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000929351.1",
"protein_id": "ENSP00000599410.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929351.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1989G>A",
"hgvs_p": "p.Met663Ile",
"transcript": "NM_001350600.2",
"protein_id": "NP_001337529.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 960,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350600.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_011535670.3",
"protein_id": "XP_011533972.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535670.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_011535671.4",
"protein_id": "XP_011533973.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535671.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_011535672.4",
"protein_id": "XP_011533974.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535672.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_011535674.4",
"protein_id": "XP_011533976.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535674.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_047418574.1",
"protein_id": "XP_047274530.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418574.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile",
"transcript": "XM_047418575.1",
"protein_id": "XP_047274531.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418575.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "XM_011535675.3",
"protein_id": "XP_011533977.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535675.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "XM_047418576.1",
"protein_id": "XP_047274532.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418576.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "XM_047418577.1",
"protein_id": "XP_047274533.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418577.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "XM_047418578.1",
"protein_id": "XP_047274534.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418578.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Met906Ile",
"transcript": "XM_047418579.1",
"protein_id": "XP_047274535.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418579.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2160G>A",
"hgvs_p": "p.Met720Ile",
"transcript": "XM_011535676.4",
"protein_id": "XP_011533978.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535676.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2160G>A",
"hgvs_p": "p.Met720Ile",
"transcript": "XM_047418580.1",
"protein_id": "XP_047274536.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418580.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile",
"transcript": "XM_011535678.4",
"protein_id": "XP_011533980.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 967,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535678.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Met543Ile",
"transcript": "XM_011535679.4",
"protein_id": "XP_011533981.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 858,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535679.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Met427Ile",
"transcript": "XM_011535680.4",
"protein_id": "XP_011533982.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 742,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535680.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "n.3035G>A",
"hgvs_p": null,
"transcript": "XR_942376.2",
"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_942376.2"
}
],
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"dbsnp": "rs149371656",
"frequency_reference_population": 0.0000068392137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000343331,
"gnomad_genomes_af": 0.0000394607,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07190775871276855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07800000160932541,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.5014,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.556,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0018943973992748,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198468.4",
"gene_symbol": "MMS22L",
"hgnc_id": 21475,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2838G>A",
"hgvs_p": "p.Met946Ile"
}
],
"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
}