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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: 6-32171310-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32171310&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32171310,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001371437.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "NM_006411.4",
"protein_id": "NP_006402.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375107.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006411.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000375107.8",
"protein_id": "ENSP00000364248.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006411.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375107.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000336984.6",
"protein_id": "ENSP00000337463.6",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336984.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2-EGFL8",
"gene_hgnc_id": 48343,
"hgvs_c": "n.*2581C>T",
"hgvs_p": null,
"transcript": "ENST00000422437.5",
"protein_id": "ENSP00000457534.1",
"transcript_support_level": 5,
"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": "ENST00000422437.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPT2-EGFL8",
"gene_hgnc_id": 48343,
"hgvs_c": "n.*2581C>T",
"hgvs_p": null,
"transcript": "ENST00000422437.5",
"protein_id": "ENSP00000457534.1",
"transcript_support_level": 5,
"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": "ENST00000422437.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Ile",
"transcript": "NM_001371437.1",
"protein_id": "NP_001358366.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 287,
"cds_start": 199,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371437.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "NM_001371438.1",
"protein_id": "NP_001358367.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371438.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "NM_001371439.1",
"protein_id": "NP_001358368.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371439.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "NM_032741.5",
"protein_id": "NP_116130.2",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032741.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000375104.6",
"protein_id": "ENSP00000364245.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375104.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000395496.5",
"protein_id": "ENSP00000378874.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395496.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000395497.5",
"protein_id": "ENSP00000378875.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395497.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000395499.5",
"protein_id": "ENSP00000378877.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395499.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000910150.1",
"protein_id": "ENSP00000580209.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910150.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000910151.1",
"protein_id": "ENSP00000580210.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910151.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000910153.1",
"protein_id": "ENSP00000580212.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910153.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929383.1",
"protein_id": "ENSP00000599442.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929383.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929385.1",
"protein_id": "ENSP00000599444.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929385.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929386.1",
"protein_id": "ENSP00000599445.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929386.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929387.1",
"protein_id": "ENSP00000599446.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929387.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929388.1",
"protein_id": "ENSP00000599447.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929388.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929389.1",
"protein_id": "ENSP00000599448.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 283,
"cds_start": 187,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929389.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
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"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000910152.1",
"protein_id": "ENSP00000580211.1",
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"aa_start": 63,
"aa_end": null,
"aa_length": 276,
"cds_start": 187,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910152.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
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"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000929384.1",
"protein_id": "ENSP00000599443.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 276,
"cds_start": 187,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929384.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
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"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000942651.1",
"protein_id": "ENSP00000612710.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 266,
"cds_start": 187,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "n.280G>A",
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"transcript": "ENST00000476663.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000476663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "n.1029G>A",
"hgvs_p": null,
"transcript": "ENST00000490711.5",
"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": "ENST00000490711.5"
}
],
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"dbsnp": "rs200978599",
"frequency_reference_population": 0.000084926796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 137,
"gnomad_exomes_af": 0.0000609249,
"gnomad_genomes_af": 0.000315085,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03628382086753845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2227,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.295,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001371437.1",
"gene_symbol": "AGPAT1",
"hgnc_id": 324,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000422437.5",
"gene_symbol": "PPT2-EGFL8",
"hgnc_id": 48343,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2581C>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
}