← 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: 11-65113370-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65113370&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65113370,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000279263.14",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly",
"transcript": "NM_003273.6",
"protein_id": "NP_003264.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 418,
"cds_start": 455,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": "ENST00000279263.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly",
"transcript": "ENST00000279263.14",
"protein_id": "ENSP00000279263.7",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 418,
"cds_start": 455,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": "NM_003273.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly",
"transcript": "ENST00000345348.9",
"protein_id": "ENSP00000329520.6",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 391,
"cds_start": 455,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.1115C>G",
"hgvs_p": null,
"transcript": "ENST00000530650.5",
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly",
"transcript": "NM_001277233.2",
"protein_id": "NP_001264162.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 391,
"cds_start": 455,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Ala123Gly",
"transcript": "ENST00000525385.5",
"protein_id": "ENSP00000433325.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 291,
"cds_start": 368,
"cds_end": null,
"cds_length": 876,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Ala123Gly",
"transcript": "ENST00000524986.5",
"protein_id": "ENSP00000435972.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 222,
"cds_start": 368,
"cds_end": null,
"cds_length": 670,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly",
"transcript": "ENST00000529414.5",
"protein_id": "ENSP00000433275.1",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 206,
"cds_start": 455,
"cds_end": null,
"cds_length": 623,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Ala84Gly",
"transcript": "ENST00000534371.5",
"protein_id": "ENSP00000432187.1",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 255,
"cds_start": 251,
"cds_end": null,
"cds_length": 769,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.*172C>G",
"hgvs_p": null,
"transcript": "ENST00000524690.5",
"protein_id": "ENSP00000434598.1",
"transcript_support_level": 5,
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.632C>G",
"hgvs_p": null,
"transcript": "ENST00000527851.5",
"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": 976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.163C>G",
"hgvs_p": null,
"transcript": "ENST00000529233.5",
"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": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000529601.5",
"protein_id": "ENSP00000435458.1",
"transcript_support_level": 2,
"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": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.647C>G",
"hgvs_p": null,
"transcript": "ENST00000530892.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.274C>G",
"hgvs_p": null,
"transcript": "ENST00000531029.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.953C>G",
"hgvs_p": null,
"transcript": "ENST00000533766.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.157C>G",
"hgvs_p": null,
"transcript": "ENST00000534667.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.544C>G",
"hgvs_p": null,
"transcript": "NR_102367.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.*172C>G",
"hgvs_p": null,
"transcript": "ENST00000524690.5",
"protein_id": "ENSP00000434598.1",
"transcript_support_level": 5,
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000529601.5",
"protein_id": "ENSP00000435458.1",
"transcript_support_level": 2,
"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": 1671,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.218-121C>G",
"hgvs_p": null,
"transcript": "ENST00000531321.5",
"protein_id": "ENSP00000431300.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 945,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.249+659C>G",
"hgvs_p": null,
"transcript": "ENST00000526809.5",
"protein_id": "ENSP00000432171.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 829,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.53-121C>G",
"hgvs_p": null,
"transcript": "ENST00000526085.5",
"protein_id": "ENSP00000434447.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.305-121C>G",
"hgvs_p": null,
"transcript": "ENST00000530750.5",
"protein_id": "ENSP00000432413.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 365,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.393+659C>G",
"hgvs_p": null,
"transcript": "ENST00000528026.5",
"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": 582,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.304+505C>G",
"hgvs_p": null,
"transcript": "ENST00000529292.5",
"protein_id": "ENSP00000436370.1",
"transcript_support_level": 5,
"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": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.-141C>G",
"hgvs_p": null,
"transcript": "ENST00000528802.1",
"protein_id": "ENSP00000436233.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"transcript": "ENST00000527968.5",
"protein_id": "ENSP00000431685.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.-180C>G",
"hgvs_p": null,
"transcript": "ENST00000526048.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"hgvs_c": "n.-1C>G",
"hgvs_p": null,
"transcript": "ENST00000532328.5",
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TM7SF2",
"gene_hgnc_id": 11863,
"dbsnp": "rs770443444",
"frequency_reference_population": 0.000061337756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000608835,
"gnomad_genomes_af": 0.0000657004,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12256461381912231,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.498,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.977,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000279263.14",
"gene_symbol": "TM7SF2",
"hgnc_id": 11863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Ala152Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}