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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: 2-127865107-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127865107&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127865107,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410953.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "NM_001199140.2",
"protein_id": "NP_001186069.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 310,
"cds_start": 920,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": "ENST00000272647.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199140.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "ENST00000272647.10",
"protein_id": "ENSP00000272647.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 310,
"cds_start": 920,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": "NM_001199140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272647.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "ENST00000393001.1",
"protein_id": "ENSP00000376726.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 310,
"cds_start": 920,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393001.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001410953.1",
"protein_id": "NP_001397882.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 355,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410953.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000681844.1",
"protein_id": "ENSP00000505104.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 355,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681844.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "NM_031445.2",
"protein_id": "NP_113633.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 310,
"cds_start": 920,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031445.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Asn270Ser",
"transcript": "NM_001410954.1",
"protein_id": "NP_001397883.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 273,
"cds_start": 809,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410954.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Asn270Ser",
"transcript": "ENST00000680886.1",
"protein_id": "ENSP00000505606.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 273,
"cds_start": 809,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680886.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Ile7Val",
"transcript": "ENST00000695238.1",
"protein_id": "ENSP00000511759.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 48,
"cds_start": 19,
"cds_end": null,
"cds_length": 147,
"cdna_start": 19,
"cdna_end": null,
"cdna_length": 147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695238.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Asn315Ser",
"transcript": "XM_005263806.6",
"protein_id": "XP_005263863.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 318,
"cds_start": 944,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263806.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.*130A>G",
"hgvs_p": null,
"transcript": "ENST00000680603.1",
"protein_id": "ENSP00000506318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.*147A>G",
"hgvs_p": null,
"transcript": "ENST00000681549.1",
"protein_id": "ENSP00000505095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*195A>G",
"hgvs_p": null,
"transcript": "ENST00000679574.1",
"protein_id": "ENSP00000506697.1",
"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": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*598A>G",
"hgvs_p": null,
"transcript": "ENST00000679797.1",
"protein_id": "ENSP00000505986.1",
"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": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*396A>G",
"hgvs_p": null,
"transcript": "ENST00000680045.1",
"protein_id": "ENSP00000506104.1",
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680045.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*422A>G",
"hgvs_p": null,
"transcript": "ENST00000680145.1",
"protein_id": "ENSP00000506553.1",
"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": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680145.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*261A>G",
"hgvs_p": null,
"transcript": "ENST00000680246.1",
"protein_id": "ENSP00000505484.1",
"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": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*337A>G",
"hgvs_p": null,
"transcript": "ENST00000680431.1",
"protein_id": "ENSP00000505675.1",
"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": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*313A>G",
"hgvs_p": null,
"transcript": "ENST00000681313.1",
"protein_id": "ENSP00000505989.1",
"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": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985803",
"gene_hgnc_id": null,
"hgvs_c": "n.127865107T>C",
"hgvs_p": null,
"transcript": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*195A>G",
"hgvs_p": null,
"transcript": "ENST00000679574.1",
"protein_id": "ENSP00000506697.1",
"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": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*598A>G",
"hgvs_p": null,
"transcript": "ENST00000679797.1",
"protein_id": "ENSP00000505986.1",
"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": 4784,
"mane_select": null,
"mane_plus": null,
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"feature": "ENST00000679797.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "AMMECR1L",
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"transcript": "ENST00000680045.1",
"protein_id": "ENSP00000506104.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_length": 4860,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680045.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "AMMECR1L",
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"hgvs_c": "n.*422A>G",
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"transcript": "ENST00000680145.1",
"protein_id": "ENSP00000506553.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4681,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680145.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "AMMECR1L",
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"hgvs_c": "n.*261A>G",
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"transcript": "ENST00000680246.1",
"protein_id": "ENSP00000505484.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4736,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680246.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "AMMECR1L",
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"transcript": "ENST00000680431.1",
"protein_id": "ENSP00000505675.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4785,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680431.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*313A>G",
"hgvs_p": null,
"transcript": "ENST00000681313.1",
"protein_id": "ENSP00000505989.1",
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"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": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681313.1"
}
],
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"dbsnp": "rs751024861",
"frequency_reference_population": 0.000010542191,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102683,
"gnomad_genomes_af": 0.0000131782,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21798500418663025,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.0801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.853,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001410953.1",
"gene_symbol": "AMMECR1L",
"hgnc_id": 28658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "",
"gene_symbol": "LOC107985803",
"hgnc_id": null,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127865107T>C",
"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
}