← 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: 22-37911995-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37911995&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37911995,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410818.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "NM_033386.4",
"protein_id": "NP_203744.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 863,
"cds_start": 190,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215957.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033386.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000215957.10",
"protein_id": "ENSP00000215957.6",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 863,
"cds_start": 190,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033386.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215957.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-63C>T",
"hgvs_p": null,
"transcript": "ENST00000454685.6",
"protein_id": "ENSP00000406053.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454685.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-63C>T",
"hgvs_p": null,
"transcript": "XM_047441554.1",
"protein_id": "XP_047297510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": null,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-84C>T",
"hgvs_p": null,
"transcript": "XM_017029026.2",
"protein_id": "XP_016884515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029026.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "NM_001410818.1",
"protein_id": "NP_001397747.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 920,
"cds_start": 190,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410818.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000680578.1",
"protein_id": "ENSP00000505762.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 920,
"cds_start": 190,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000869043.1",
"protein_id": "ENSP00000539102.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 879,
"cds_start": 190,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869043.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "NM_001410819.1",
"protein_id": "NP_001397748.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 872,
"cds_start": 190,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410819.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000424008.2",
"protein_id": "ENSP00000416766.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 872,
"cds_start": 190,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424008.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000919445.1",
"protein_id": "ENSP00000589504.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 870,
"cds_start": 190,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919445.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000869044.1",
"protein_id": "ENSP00000539103.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 869,
"cds_start": 190,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869044.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "NM_001410820.1",
"protein_id": "NP_001397749.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 861,
"cds_start": 190,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410820.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000445494.6",
"protein_id": "ENSP00000404543.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 861,
"cds_start": 190,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445494.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "ENST00000869042.1",
"protein_id": "ENSP00000539101.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 861,
"cds_start": 190,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869042.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "XM_011530471.3",
"protein_id": "XP_011528773.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 929,
"cds_start": 190,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530471.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "XM_011530472.3",
"protein_id": "XP_011528774.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 927,
"cds_start": 190,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530472.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "XM_047441552.1",
"protein_id": "XP_047297508.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 918,
"cds_start": 190,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441552.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "XM_005261792.4",
"protein_id": "XP_005261849.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 870,
"cds_start": 190,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261792.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys",
"transcript": "XM_011530476.3",
"protein_id": "XP_011528778.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 493,
"cds_start": 190,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530476.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-63C>T",
"hgvs_p": null,
"transcript": "ENST00000454685.6",
"protein_id": "ENSP00000406053.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454685.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-63C>T",
"hgvs_p": null,
"transcript": "XM_047441554.1",
"protein_id": "XP_047297510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": null,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "c.-84C>T",
"hgvs_p": null,
"transcript": "XM_017029026.2",
"protein_id": "XP_016884515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029026.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "n.641C>T",
"hgvs_p": null,
"transcript": "ENST00000489812.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000679832.1",
"protein_id": "ENSP00000504906.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000680375.1",
"protein_id": "ENSP00000504999.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000680501.1",
"protein_id": "ENSP00000506402.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000681920.1",
"protein_id": "ENSP00000504884.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681920.1"
}
],
"gene_symbol": "MICALL1",
"gene_hgnc_id": 29804,
"dbsnp": "rs576976408",
"frequency_reference_population": 0.000015488738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000136811,
"gnomad_genomes_af": 0.0000328506,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7816376686096191,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.742,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1376,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.23,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410818.1",
"gene_symbol": "MICALL1",
"hgnc_id": 29804,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Cys"
}
],
"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
}