← 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: 11-47618877-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47618877&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47618877,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001317231.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Pro290Ala",
"transcript": "NM_014342.4",
"protein_id": "NP_055157.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 303,
"cds_start": 868,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302503.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014342.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Pro290Ala",
"transcript": "ENST00000302503.8",
"protein_id": "ENSP00000303222.3",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 303,
"cds_start": 868,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014342.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302503.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Pro328Ala",
"transcript": "ENST00000947886.1",
"protein_id": "ENSP00000617945.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 982,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947886.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Pro290Ala",
"transcript": "NM_001317231.2",
"protein_id": "NP_001304160.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 314,
"cds_start": 868,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317231.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Pro300Ala",
"transcript": "ENST00000864071.1",
"protein_id": "ENSP00000534130.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 313,
"cds_start": 898,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864071.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.871C>G",
"hgvs_p": "p.Pro291Ala",
"transcript": "ENST00000864075.1",
"protein_id": "ENSP00000534134.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 304,
"cds_start": 871,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864075.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Pro289Ala",
"transcript": "ENST00000947887.1",
"protein_id": "ENSP00000617946.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 302,
"cds_start": 865,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947887.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.856C>G",
"hgvs_p": "p.Pro286Ala",
"transcript": "ENST00000920962.1",
"protein_id": "ENSP00000591021.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 299,
"cds_start": 856,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920962.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.841C>G",
"hgvs_p": "p.Pro281Ala",
"transcript": "NM_001317232.2",
"protein_id": "NP_001304161.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 294,
"cds_start": 841,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317232.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.841C>G",
"hgvs_p": "p.Pro281Ala",
"transcript": "ENST00000530428.2",
"protein_id": "ENSP00000432043.2",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 294,
"cds_start": 841,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530428.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Pro270Ala",
"transcript": "ENST00000864073.1",
"protein_id": "ENSP00000534132.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 283,
"cds_start": 808,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864073.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.778C>G",
"hgvs_p": "p.Pro260Ala",
"transcript": "ENST00000864069.1",
"protein_id": "ENSP00000534128.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 273,
"cds_start": 778,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864069.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Pro245Ala",
"transcript": "ENST00000920959.1",
"protein_id": "ENSP00000591018.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 258,
"cds_start": 733,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920959.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Pro242Ala",
"transcript": "ENST00000864074.1",
"protein_id": "ENSP00000534133.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 255,
"cds_start": 724,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864074.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.658C>G",
"hgvs_p": "p.Pro220Ala",
"transcript": "ENST00000920960.1",
"protein_id": "ENSP00000591019.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 233,
"cds_start": 658,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920960.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Pro217Ala",
"transcript": "ENST00000920965.1",
"protein_id": "ENSP00000591024.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 230,
"cds_start": 649,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920965.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.604C>G",
"hgvs_p": "p.Pro202Ala",
"transcript": "ENST00000920963.1",
"protein_id": "ENSP00000591022.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 215,
"cds_start": 604,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920963.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Pro186Ala",
"transcript": "ENST00000920964.1",
"protein_id": "ENSP00000591023.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 199,
"cds_start": 556,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920964.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.514C>G",
"hgvs_p": "p.Pro172Ala",
"transcript": "ENST00000920958.1",
"protein_id": "ENSP00000591017.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 185,
"cds_start": 514,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920958.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.466C>G",
"hgvs_p": "p.Pro156Ala",
"transcript": "ENST00000864070.1",
"protein_id": "ENSP00000534129.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 169,
"cds_start": 466,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864070.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.424C>G",
"hgvs_p": "p.Pro142Ala",
"transcript": "NM_001317233.2",
"protein_id": "NP_001304162.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 155,
"cds_start": 424,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317233.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.322C>G",
"hgvs_p": "p.Pro108Ala",
"transcript": "ENST00000920961.1",
"protein_id": "ENSP00000591020.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 121,
"cds_start": 322,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920961.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"transcript": "ENST00000864072.1",
"protein_id": "ENSP00000534131.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 105,
"cds_start": 274,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864072.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.487C>G",
"hgvs_p": "p.Pro163Ala",
"transcript": "XM_047426701.1",
"protein_id": "XP_047282657.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 176,
"cds_start": 487,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.*20C>G",
"hgvs_p": null,
"transcript": "XM_006718172.3",
"protein_id": "XP_006718235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718172.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.*20C>G",
"hgvs_p": null,
"transcript": "XM_017017462.3",
"protein_id": "XP_016872951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017462.3"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.825+3824C>G",
"hgvs_p": null,
"transcript": "XM_011519959.3",
"protein_id": "XP_011518261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519959.3"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.798+3824C>G",
"hgvs_p": null,
"transcript": "XM_011519960.4",
"protein_id": "XP_011518262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519960.4"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.757+3824C>G",
"hgvs_p": null,
"transcript": "XM_011519961.3",
"protein_id": "XP_011518263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519961.3"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "c.444+3824C>G",
"hgvs_p": null,
"transcript": "XM_047426700.1",
"protein_id": "XP_047282656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "n.561C>G",
"hgvs_p": null,
"transcript": "ENST00000525649.5",
"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": "ENST00000525649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "n.915C>G",
"hgvs_p": null,
"transcript": "ENST00000533571.2",
"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": "pseudogene",
"feature": "ENST00000533571.2"
},
{
"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": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "n.638C>G",
"hgvs_p": null,
"transcript": "ENST00000534074.5",
"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": "ENST00000534074.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"hgvs_c": "n.357-1338C>G",
"hgvs_p": null,
"transcript": "ENST00000539759.5",
"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": "ENST00000539759.5"
}
],
"gene_symbol": "MTCH2",
"gene_hgnc_id": 17587,
"dbsnp": "rs1064608",
"frequency_reference_population": 0.36278176,
"hom_count_reference_population": 85801,
"allele_count_reference_population": 492268,
"gnomad_exomes_af": 0.362782,
"gnomad_genomes_af": 0.560376,
"gnomad_exomes_ac": 492268,
"gnomad_genomes_ac": 42472,
"gnomad_exomes_homalt": 85801,
"gnomad_genomes_homalt": 6973,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017271935939788818,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2833,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.227,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001317231.2",
"gene_symbol": "MTCH2",
"hgnc_id": 17587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Pro290Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}