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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: 6-32172500-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32172500&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32172500,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001371437.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "NM_006411.4",
"protein_id": "NP_006402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000375107.8",
"protein_id": "ENSP00000364248.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000336984.6",
"protein_id": "ENSP00000337463.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.4-995G>T",
"hgvs_p": null,
"transcript": "NM_001371437.1",
"protein_id": "NP_001358366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "NM_001371438.1",
"protein_id": "NP_001358367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-10+438G>T",
"hgvs_p": null,
"transcript": "NM_001371439.1",
"protein_id": "NP_001358368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "NM_032741.5",
"protein_id": "NP_116130.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000375104.6",
"protein_id": "ENSP00000364245.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-10+438G>T",
"hgvs_p": null,
"transcript": "ENST00000395496.5",
"protein_id": "ENSP00000378874.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000395497.5",
"protein_id": "ENSP00000378875.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000395499.5",
"protein_id": "ENSP00000378877.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
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"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": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000910150.1",
"protein_id": "ENSP00000580209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"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"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000910151.1",
"protein_id": "ENSP00000580210.1",
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"aa_start": null,
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"aa_length": 283,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910151.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-10+466G>T",
"hgvs_p": null,
"transcript": "ENST00000910153.1",
"protein_id": "ENSP00000580212.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910153.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929383.1",
"protein_id": "ENSP00000599442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929383.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929385.1",
"protein_id": "ENSP00000599444.1",
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"biotype": "protein_coding",
"feature": "ENST00000929385.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929386.1",
"protein_id": "ENSP00000599445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000929386.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929387.1",
"protein_id": "ENSP00000599446.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 283,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000929387.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929388.1",
"protein_id": "ENSP00000599447.1",
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"feature": "ENST00000929388.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-10+869G>T",
"hgvs_p": null,
"transcript": "ENST00000929389.1",
"protein_id": "ENSP00000599448.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000929389.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000910152.1",
"protein_id": "ENSP00000580211.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910152.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
"hgvs_p": null,
"transcript": "ENST00000929384.1",
"protein_id": "ENSP00000599443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"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"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGPAT1",
"gene_hgnc_id": 324,
"hgvs_c": "c.-9-995G>T",
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{
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"biotype": "pseudogene",
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{
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"biotype": "pseudogene",
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],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.180838,
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"gnomad_genomes_ac": 27483,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2633,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.427,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001371437.1",
"gene_symbol": "AGPAT1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4-995G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}