← 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: 1-11788086-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11788086&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11788086,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000376590.9",
"consequences": [
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "NM_005957.5",
"protein_id": "NP_005948.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7018,
"mane_select": "ENST00000376590.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "ENST00000376590.9",
"protein_id": "ENSP00000365775.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7018,
"mane_select": "NM_005957.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "ENST00000376592.6",
"protein_id": "ENSP00000365777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null,
"transcript": "NM_001010881.2",
"protein_id": "NP_001010881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": -4,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": "ENST00000688073.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null,
"transcript": "ENST00000688073.1",
"protein_id": "ENSP00000510540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": -4,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": "NM_001010881.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1346+39G>A",
"hgvs_p": null,
"transcript": "ENST00000444493.5",
"protein_id": "ENSP00000398213.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": -4,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1175+39G>A",
"hgvs_p": null,
"transcript": "ENST00000449278.1",
"protein_id": "ENSP00000399272.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "n.236+39G>A",
"hgvs_p": null,
"transcript": "ENST00000482358.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "NM_001330358.2",
"protein_id": "NP_001317287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "ENST00000376583.7",
"protein_id": "ENSP00000365767.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "ENST00000376585.6",
"protein_id": "ENSP00000365770.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "NM_001410750.1",
"protein_id": "NP_001397679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": -4,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2454C>T",
"hgvs_p": null,
"transcript": "XM_011541496.4",
"protein_id": "XP_011539798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2454C>T",
"hgvs_p": null,
"transcript": "XM_047421174.1",
"protein_id": "XP_047277130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": -4,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_005263462.5",
"protein_id": "XP_005263519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_047421178.1",
"protein_id": "XP_047277134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_017001328.3",
"protein_id": "XP_016856817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": -4,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2454C>T",
"hgvs_p": null,
"transcript": "XM_047421179.1",
"protein_id": "XP_047277135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_047421180.1",
"protein_id": "XP_047277136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_047421181.1",
"protein_id": "XP_047277137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*2594C>T",
"hgvs_p": null,
"transcript": "XM_005263463.5",
"protein_id": "XP_005263520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": -4,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3362+39G>A",
"hgvs_p": null,
"transcript": "ENST00000433342.6",
"protein_id": "ENSP00000414909.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1282,
"cds_start": -4,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1997+39G>A",
"hgvs_p": null,
"transcript": "ENST00000312793.9",
"protein_id": "ENSP00000317749.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_024446506.2",
"protein_id": "XP_024302274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_024446507.2",
"protein_id": "XP_024302275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_024446508.2",
"protein_id": "XP_024302276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_024446509.2",
"protein_id": "XP_024302277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3929+39G>A",
"hgvs_p": null,
"transcript": "XM_024446512.2",
"protein_id": "XP_024302280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1516,
"cds_start": -4,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_011541272.4",
"protein_id": "XP_011539574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1494,
"cds_start": -4,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null,
"transcript": "XM_024446514.2",
"protein_id": "XP_024302282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null,
"transcript": "XM_024446515.2",
"protein_id": "XP_024302283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null,
"transcript": "XM_024446517.2",
"protein_id": "XP_024302285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_011541276.4",
"protein_id": "XP_011539578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1467,
"cds_start": -4,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_011541277.4",
"protein_id": "XP_011539579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1431,
"cds_start": -4,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3983+39G>A",
"hgvs_p": null,
"transcript": "XM_011541278.3",
"protein_id": "XP_011539580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1406,
"cds_start": -4,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.2264+39G>A",
"hgvs_p": null,
"transcript": "XM_024446518.2",
"protein_id": "XP_024302286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.2264+39G>A",
"hgvs_p": null,
"transcript": "XM_047418137.1",
"protein_id": "XP_047274093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "n.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000475041.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTHFR",
"gene_hgnc_id": 7436,
"dbsnp": "rs41275468",
"frequency_reference_population": 0.0039371923,
"hom_count_reference_population": 10,
"allele_count_reference_population": 5043,
"gnomad_exomes_af": 0.00415247,
"gnomad_genomes_af": 0.00234286,
"gnomad_exomes_ac": 4686,
"gnomad_genomes_ac": 357,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.159,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000376590.9",
"gene_symbol": "MTHFR",
"hgnc_id": 7436,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2594C>T",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000688073.1",
"gene_symbol": "C1orf167",
"hgnc_id": 25262,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3848+39G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}