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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: 6-43432257-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43432257&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43432257,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198934.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "NM_001198934.2",
"protein_id": "NP_001185863.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372530.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198934.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000372530.9",
"protein_id": "ENSP00000361608.4",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001198934.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372530.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000244533.7",
"protein_id": "ENSP00000244533.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1464,
"cds_start": 148,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244533.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000921385.1",
"protein_id": "ENSP00000591444.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1507,
"cds_start": 277,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921385.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000854259.1",
"protein_id": "ENSP00000524318.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854259.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000854260.1",
"protein_id": "ENSP00000524319.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854260.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000952098.1",
"protein_id": "ENSP00000622157.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952098.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "ENST00000952099.1",
"protein_id": "ENSP00000622158.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1488,
"cds_start": 277,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952099.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "NM_033450.3",
"protein_id": "NP_258261.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1464,
"cds_start": 148,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033450.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.370G>T",
"hgvs_p": "p.Ala124Ser",
"transcript": "XM_047419494.1",
"protein_id": "XP_047275450.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1523,
"cds_start": 370,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419494.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_011514974.4",
"protein_id": "XP_011513276.3",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514974.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419495.1",
"protein_id": "XP_047275451.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1492,
"cds_start": 277,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419495.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1435,
"cds_start": 277,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419496.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1428,
"cds_start": 277,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419497.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419498.1",
"protein_id": "XP_047275454.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1396,
"cds_start": 277,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419498.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419500.1",
"protein_id": "XP_047275456.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1268,
"cds_start": 277,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419500.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser",
"transcript": "XM_047419501.1",
"protein_id": "XP_047275457.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1237,
"cds_start": 277,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.-228G>T",
"hgvs_p": null,
"transcript": "XM_047419499.1",
"protein_id": "XP_047275455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": null,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.-78-978G>T",
"hgvs_p": null,
"transcript": "NM_001350518.2",
"protein_id": "NP_001337447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350518.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.-78-978G>T",
"hgvs_p": null,
"transcript": "ENST00000372515.9",
"protein_id": "ENSP00000361593.4",
"transcript_support_level": 5,
"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": "ENST00000372515.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.-78-978G>T",
"hgvs_p": null,
"transcript": "XM_047419502.1",
"protein_id": "XP_047275458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.393G>T",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"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": "XR_007059383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.393G>T",
"hgvs_p": null,
"transcript": "XR_007059384.1",
"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": "XR_007059384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.113-978G>T",
"hgvs_p": null,
"transcript": "ENST00000443426.2",
"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": "ENST00000443426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.106-978G>T",
"hgvs_p": null,
"transcript": "NR_146762.2",
"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_146762.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.*81G>T",
"hgvs_p": null,
"transcript": "ENST00000502549.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000502549.1"
}
],
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"dbsnp": "rs1781219005",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07007333636283875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.078,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.82,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198934.2",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Ala93Ser"
}
],
"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
}