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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: 21-42273345-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42273345&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42273345,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004915.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "NM_016818.3",
"protein_id": "NP_058198.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 666,
"cds_start": 447,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398449.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016818.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000398449.8",
"protein_id": "ENSP00000381467.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 666,
"cds_start": 447,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398449.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Pro295Pro",
"transcript": "ENST00000398437.1",
"protein_id": "ENSP00000381464.1",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 824,
"cds_start": 885,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398437.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000361802.7",
"protein_id": "ENSP00000354995.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 678,
"cds_start": 447,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361802.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Pro160Pro",
"transcript": "ENST00000343687.7",
"protein_id": "ENSP00000339744.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 677,
"cds_start": 480,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343687.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Pro151Pro",
"transcript": "ENST00000398457.6",
"protein_id": "ENSP00000381475.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 668,
"cds_start": 453,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398457.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.438C>G",
"hgvs_p": "p.Pro146Pro",
"transcript": "ENST00000347800.6",
"protein_id": "ENSP00000291524.4",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 663,
"cds_start": 438,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347800.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "n.631C>G",
"hgvs_p": null,
"transcript": "ENST00000462050.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000462050.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000878298.1",
"protein_id": "ENSP00000548357.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 702,
"cds_start": 447,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878298.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000878297.1",
"protein_id": "ENSP00000548356.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 690,
"cds_start": 447,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878297.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "NM_004915.4",
"protein_id": "NP_004906.3",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 678,
"cds_start": 447,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004915.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Pro160Pro",
"transcript": "NM_207174.1",
"protein_id": "NP_997057.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 677,
"cds_start": 480,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207174.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Pro151Pro",
"transcript": "NM_207627.2",
"protein_id": "NP_997510.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 668,
"cds_start": 453,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207627.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.438C>G",
"hgvs_p": "p.Pro146Pro",
"transcript": "NM_207629.2",
"protein_id": "NP_997512.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 663,
"cds_start": 438,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207629.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000878300.1",
"protein_id": "ENSP00000548359.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 654,
"cds_start": 447,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878300.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.381C>G",
"hgvs_p": "p.Pro127Pro",
"transcript": "NM_207628.1",
"protein_id": "NP_997511.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 644,
"cds_start": 381,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207628.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000878299.1",
"protein_id": "ENSP00000548358.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 613,
"cds_start": 447,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878299.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000450121.5",
"protein_id": "ENSP00000414541.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 256,
"cds_start": 447,
"cds_end": null,
"cds_length": 772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450121.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.771C>G",
"hgvs_p": "p.Pro257Pro",
"transcript": "XM_024452141.2",
"protein_id": "XP_024307909.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 786,
"cds_start": 771,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452141.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Pro160Pro",
"transcript": "XM_011529806.2",
"protein_id": "XP_011528108.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 689,
"cds_start": 480,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529806.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Pro160Pro",
"transcript": "XM_011529807.4",
"protein_id": "XP_011528109.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 641,
"cds_start": 480,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529807.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "XM_047441054.1",
"protein_id": "XP_047297010.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 630,
"cds_start": 447,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441054.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Pro160Pro",
"transcript": "XM_047441053.1",
"protein_id": "XP_047297009.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 629,
"cds_start": 480,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441053.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro",
"transcript": "XM_047441055.1",
"protein_id": "XP_047297011.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 618,
"cds_start": 447,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441055.1"
}
],
"gene_symbol": "ABCG1",
"gene_hgnc_id": 73,
"dbsnp": "rs61735843",
"frequency_reference_population": 0.0009182907,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1482,
"gnomad_exomes_af": 0.000511785,
"gnomad_genomes_af": 0.00481893,
"gnomad_exomes_ac": 748,
"gnomad_genomes_ac": 734,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.597,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004915.4",
"gene_symbol": "ABCG1",
"hgnc_id": 73,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.447C>G",
"hgvs_p": "p.Pro149Pro"
}
],
"clinvar_disease": "ABCG1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|ABCG1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}