← 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: 1-156733033-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156733033&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156733033,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015997.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "NM_015997.4",
"protein_id": "NP_057081.3",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 475,
"cds_start": 478,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": "ENST00000368216.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015997.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000368216.9",
"protein_id": "ENSP00000357199.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 475,
"cds_start": 478,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": "NM_015997.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368216.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-33G>T",
"hgvs_p": null,
"transcript": "XM_047421943.1",
"protein_id": "XP_047277899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-33G>T",
"hgvs_p": null,
"transcript": "XM_047421944.1",
"protein_id": "XP_047277900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421944.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000917461.1",
"protein_id": "ENSP00000587520.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 459,
"cds_start": 478,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917461.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000892486.1",
"protein_id": "ENSP00000562545.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 456,
"cds_start": 478,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892486.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.268G>T",
"hgvs_p": "p.Val90Leu",
"transcript": "ENST00000892484.1",
"protein_id": "ENSP00000562543.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 405,
"cds_start": 268,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892484.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000892485.1",
"protein_id": "ENSP00000562544.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 309,
"cds_start": 478,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892485.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000892483.1",
"protein_id": "ENSP00000562542.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 290,
"cds_start": 478,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892483.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.472G>T",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000917458.1",
"protein_id": "ENSP00000587517.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 288,
"cds_start": 472,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917458.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "NM_001142560.2",
"protein_id": "NP_001136032.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 277,
"cds_start": 478,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142560.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "ENST00000368218.8",
"protein_id": "ENSP00000357201.4",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 277,
"cds_start": 478,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368218.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000522237.1",
"protein_id": "ENSP00000429800.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 137,
"cds_start": 136,
"cds_end": null,
"cds_length": 414,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522237.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Val58Leu",
"transcript": "ENST00000484742.5",
"protein_id": "ENSP00000429053.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 99,
"cds_start": 172,
"cds_end": null,
"cds_length": 302,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484742.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "XM_005245234.6",
"protein_id": "XP_005245291.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 443,
"cds_start": 478,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245234.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Val94Leu",
"transcript": "XM_011509600.2",
"protein_id": "XP_011507902.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 409,
"cds_start": 280,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509600.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Val94Leu",
"transcript": "XM_017001404.2",
"protein_id": "XP_016856893.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 409,
"cds_start": 280,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001404.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.268G>T",
"hgvs_p": "p.Val90Leu",
"transcript": "XM_005245235.6",
"protein_id": "XP_005245292.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 405,
"cds_start": 268,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245235.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "XM_047421932.1",
"protein_id": "XP_047277888.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 373,
"cds_start": 478,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421932.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Val58Leu",
"transcript": "XM_047421937.1",
"protein_id": "XP_047277893.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 341,
"cds_start": 172,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421937.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "XM_005245236.6",
"protein_id": "XP_005245293.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 328,
"cds_start": 478,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245236.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "XM_005245237.6",
"protein_id": "XP_005245294.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 321,
"cds_start": 478,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245237.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu",
"transcript": "XM_024447421.2",
"protein_id": "XP_024303189.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 296,
"cds_start": 478,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447421.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.268G>T",
"hgvs_p": "p.Val90Leu",
"transcript": "XM_047421948.1",
"protein_id": "XP_047277904.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 258,
"cds_start": 268,
"cds_end": null,
"cds_length": 777,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-33G>T",
"hgvs_p": null,
"transcript": "XM_047421943.1",
"protein_id": "XP_047277899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-33G>T",
"hgvs_p": null,
"transcript": "XM_047421944.1",
"protein_id": "XP_047277900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421944.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-344G>T",
"hgvs_p": null,
"transcript": "ENST00000917460.1",
"protein_id": "ENSP00000587519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917460.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.430-344G>T",
"hgvs_p": null,
"transcript": "ENST00000519086.5",
"protein_id": "ENSP00000429756.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519086.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-344G>T",
"hgvs_p": null,
"transcript": "ENST00000917462.1",
"protein_id": "ENSP00000587521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917462.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-344G>T",
"hgvs_p": null,
"transcript": "ENST00000917459.1",
"protein_id": "ENSP00000587518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917459.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.124-344G>T",
"hgvs_p": null,
"transcript": "ENST00000476229.5",
"protein_id": "ENSP00000430787.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476229.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "n.192G>T",
"hgvs_p": null,
"transcript": "ENST00000517871.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000517871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.*68G>T",
"hgvs_p": null,
"transcript": "ENST00000524343.1",
"protein_id": "ENSP00000429389.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524343.1"
}
],
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"dbsnp": "rs367820508",
"frequency_reference_population": 6.840947e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84095e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3585330843925476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.3686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.507,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015997.4",
"gene_symbol": "METTL25B",
"hgnc_id": 24273,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Val160Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}