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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: 6-4125267-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4125267&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 4125267,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_206836.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "NM_206836.3",
"protein_id": "NP_996667.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 394,
"cds_start": 778,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380118.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206836.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000380118.8",
"protein_id": "ENSP00000369461.3",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 394,
"cds_start": 778,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206836.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380118.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "ENST00000361538.6",
"protein_id": "ENSP00000354737.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361538.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "ENST00000380125.6",
"protein_id": "ENSP00000369468.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380125.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*336G>A",
"hgvs_p": null,
"transcript": "ENST00000496241.6",
"protein_id": "ENSP00000417170.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496241.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*336G>A",
"hgvs_p": null,
"transcript": "ENST00000496241.6",
"protein_id": "ENSP00000417170.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496241.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000866744.1",
"protein_id": "ENSP00000536802.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 424,
"cds_start": 778,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866744.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000866741.1",
"protein_id": "ENSP00000536800.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 404,
"cds_start": 778,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866741.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "NM_001166010.2",
"protein_id": "NP_001159482.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166010.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "NM_006117.3",
"protein_id": "NP_006108.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006117.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "ENST00000465828.5",
"protein_id": "ENSP00000420309.1",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 364,
"cds_start": 688,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465828.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000866740.1",
"protein_id": "ENSP00000536799.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 364,
"cds_start": 778,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866740.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000866743.1",
"protein_id": "ENSP00000536801.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 346,
"cds_start": 778,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866743.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "ENST00000866745.1",
"protein_id": "ENSP00000536804.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 331,
"cds_start": 589,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866745.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Val218Met",
"transcript": "ENST00000866747.1",
"protein_id": "ENSP00000536806.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 322,
"cds_start": 652,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866747.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met",
"transcript": "ENST00000866749.1",
"protein_id": "ENSP00000536807.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 316,
"cds_start": 778,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*401G>A",
"hgvs_p": null,
"transcript": "ENST00000380120.6",
"protein_id": "ENSP00000369463.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000380120.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.1050C>T",
"hgvs_p": null,
"transcript": "ENST00000427996.5",
"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": "ENST00000427996.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.1150C>T",
"hgvs_p": null,
"transcript": "ENST00000436110.1",
"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": "ENST00000436110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1547G>A",
"hgvs_p": null,
"transcript": "ENST00000464057.5",
"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": "ENST00000464057.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1563G>A",
"hgvs_p": null,
"transcript": "ENST00000464583.5",
"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": "ENST00000464583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.854G>A",
"hgvs_p": null,
"transcript": "NR_028588.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028588.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TEX56P",
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"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": "NR_104463.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TEX56P",
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"biotype": "pseudogene",
"feature": "NR_104464.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECI2",
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"hgvs_c": "n.*401G>A",
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"transcript": "ENST00000380120.6",
"protein_id": "ENSP00000369463.2",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380120.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.601-645C>T",
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"transcript": "ENST00000451679.6",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451679.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.571+2495G>A",
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"transcript": "ENST00000478266.6",
"protein_id": "ENSP00000417803.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000478266.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.115+3221C>T",
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"transcript": "ENST00000496987.1",
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"transcript_support_level": 3,
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"aa_end": null,
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"cds_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496987.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
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"hgvs_c": "n.1147+3221C>T",
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"transcript": "ENST00000643110.1",
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"biotype": "pseudogene",
"feature": "ENST00000643110.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
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"hgvs_c": "n.1147+3221C>T",
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"transcript": "NR_172627.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172627.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.769+3221C>T",
"hgvs_p": null,
"transcript": "NR_172628.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172628.1"
}
],
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"dbsnp": "rs41302847",
"frequency_reference_population": 0.000026020693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.000025311,
"gnomad_genomes_af": 0.0000328334,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7411562204360962,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.358,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.545,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206836.3",
"gene_symbol": "ECI2",
"hgnc_id": 14601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Met"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427996.5",
"gene_symbol": "TEX56P",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1050C>T",
"hgvs_p": null
}
],
"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
}