← 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: 11-63899923-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63899923&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 63899923,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001039469.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "NM_001039469.3",
"protein_id": "NP_001034558.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 788,
"cds_start": 581,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402010.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039469.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000402010.8",
"protein_id": "ENSP00000385751.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 788,
"cds_start": 581,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039469.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402010.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000513765.7",
"protein_id": "ENSP00000421075.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 779,
"cds_start": 581,
"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": "ENST00000513765.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000425897.3",
"protein_id": "ENSP00000415494.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 763,
"cds_start": 581,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425897.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000361128.9",
"protein_id": "ENSP00000355091.5",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 719,
"cds_start": 581,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361128.9"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000350490.11",
"protein_id": "ENSP00000294247.9",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 709,
"cds_start": 581,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350490.11"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"transcript": "ENST00000408948.7",
"protein_id": "ENSP00000386128.3",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 691,
"cds_start": 482,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408948.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000906218.1",
"protein_id": "ENSP00000576277.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 787,
"cds_start": 581,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906218.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000502399.7",
"protein_id": "ENSP00000423452.3",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 778,
"cds_start": 581,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502399.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000906219.1",
"protein_id": "ENSP00000576278.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 772,
"cds_start": 581,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906219.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Phe172Ser",
"transcript": "ENST00000911907.1",
"protein_id": "ENSP00000581966.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 766,
"cds_start": 515,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911907.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000911905.1",
"protein_id": "ENSP00000581964.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 764,
"cds_start": 581,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911905.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"transcript": "NM_017490.4",
"protein_id": "NP_059672.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 745,
"cds_start": 482,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017490.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"transcript": "ENST00000509502.6",
"protein_id": "ENSP00000423974.2",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 745,
"cds_start": 482,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509502.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000911904.1",
"protein_id": "ENSP00000581963.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 734,
"cds_start": 581,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911904.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000906217.1",
"protein_id": "ENSP00000576276.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 733,
"cds_start": 581,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906217.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000377810.8",
"protein_id": "ENSP00000367041.5",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 732,
"cds_start": 581,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377810.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000906220.1",
"protein_id": "ENSP00000576279.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 725,
"cds_start": 581,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906220.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "NM_004954.5",
"protein_id": "NP_004945.4",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 724,
"cds_start": 581,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004954.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000508192.5",
"protein_id": "ENSP00000425765.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 724,
"cds_start": 581,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508192.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "NM_001163296.2",
"protein_id": "NP_001156768.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 719,
"cds_start": 581,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163296.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000679216.1",
"protein_id": "ENSP00000504337.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 718,
"cds_start": 581,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679216.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "ENST00000911908.1",
"protein_id": "ENSP00000581967.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 710,
"cds_start": 581,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911908.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser",
"transcript": "NM_001163297.2",
"protein_id": "NP_001156769.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 709,
"cds_start": 581,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163297.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"transcript": "ENST00000707173.1",
"protein_id": "ENSP00000516773.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 676,
"cds_start": 482,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707173.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"transcript": "ENST00000543220.5",
"protein_id": "ENSP00000444956.1",
"transcript_support_level": 4,
"aa_start": 161,
"aa_end": null,
"aa_length": 160,
"cds_start": 482,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543220.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "c.532-636T>C",
"hgvs_p": null,
"transcript": "ENST00000911906.1",
"protein_id": "ENSP00000581965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "n.2972T>C",
"hgvs_p": null,
"transcript": "ENST00000676602.1",
"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": "retained_intron",
"feature": "ENST00000676602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "n.482T>C",
"hgvs_p": null,
"transcript": "ENST00000677688.1",
"protein_id": "ENSP00000503547.1",
"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": "ENST00000677688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "n.2991T>C",
"hgvs_p": null,
"transcript": "ENST00000678482.1",
"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": "retained_intron",
"feature": "ENST00000678482.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "n.438T>C",
"hgvs_p": null,
"transcript": "ENST00000678662.1",
"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": "retained_intron",
"feature": "ENST00000678662.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"hgvs_c": "n.1264T>C",
"hgvs_p": null,
"transcript": "ENST00000679321.1",
"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": "retained_intron",
"feature": "ENST00000679321.1"
}
],
"gene_symbol": "MARK2",
"gene_hgnc_id": 3332,
"dbsnp": "rs1940729976",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9862354397773743,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.847,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.015,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001039469.3",
"gene_symbol": "MARK2",
"hgnc_id": 3332,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Phe194Ser"
}
],
"clinvar_disease": "Autism spectrum disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided|Autism spectrum disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}