← Back to variant description
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: 12-21637141-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21637141&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21637141,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001315537.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "NM_002300.8",
"protein_id": "NP_002291.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350669.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002300.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000350669.5",
"protein_id": "ENSP00000229319.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002300.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350669.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "n.240G>A",
"hgvs_p": null,
"transcript": "ENST00000470985.3",
"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": "retained_intron",
"feature": "ENST00000470985.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285854",
"gene_hgnc_id": null,
"hgvs_c": "n.767G>A",
"hgvs_p": null,
"transcript": "ENST00000647960.1",
"protein_id": "ENSP00000497202.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647960.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "NM_001315537.2",
"protein_id": "NP_001302466.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 341,
"cds_start": 767,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315537.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000673047.2",
"protein_id": "ENSP00000500484.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 341,
"cds_start": 767,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673047.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "NM_001174097.3",
"protein_id": "NP_001167568.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174097.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000396076.5",
"protein_id": "ENSP00000379386.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396076.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895165.1",
"protein_id": "ENSP00000565224.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895165.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895166.1",
"protein_id": "ENSP00000565225.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895166.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895167.1",
"protein_id": "ENSP00000565226.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895167.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895168.1",
"protein_id": "ENSP00000565227.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895168.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895169.1",
"protein_id": "ENSP00000565228.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895169.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895170.1",
"protein_id": "ENSP00000565229.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895170.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000895171.1",
"protein_id": "ENSP00000565230.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895171.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000915334.1",
"protein_id": "ENSP00000585393.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915334.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000915335.1",
"protein_id": "ENSP00000585394.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915335.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000915336.1",
"protein_id": "ENSP00000585395.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915336.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000915337.1",
"protein_id": "ENSP00000585396.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915337.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000944678.1",
"protein_id": "ENSP00000614737.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944678.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000944679.1",
"protein_id": "ENSP00000614738.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944679.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "ENST00000944680.1",
"protein_id": "ENSP00000614739.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 334,
"cds_start": 767,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944680.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Ser198Asn",
"transcript": "NM_001414233.1",
"protein_id": "NP_001401162.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 276,
"cds_start": 593,
"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": "NM_001414233.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Ser194Asn",
"transcript": "NM_001414234.1",
"protein_id": "NP_001401163.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 272,
"cds_start": 581,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414234.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn",
"transcript": "XM_006719074.3",
"protein_id": "XP_006719137.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 353,
"cds_start": 767,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719074.3"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "c.713+1212G>A",
"hgvs_p": null,
"transcript": "NM_001414235.1",
"protein_id": "NP_001401164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"hgvs_c": "n.234G>A",
"hgvs_p": null,
"transcript": "ENST00000542765.4",
"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": "retained_intron",
"feature": "ENST00000542765.4"
}
],
"gene_symbol": "LDHB",
"gene_hgnc_id": 6541,
"dbsnp": "rs145355418",
"frequency_reference_population": 0.0003805763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 611,
"gnomad_exomes_af": 0.000363311,
"gnomad_genomes_af": 0.000545486,
"gnomad_exomes_ac": 528,
"gnomad_genomes_ac": 83,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0755818784236908,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.476,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9641,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.056,
"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_001315537.2",
"gene_symbol": "LDHB",
"hgnc_id": 6541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Ser256Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647960.1",
"gene_symbol": "ENSG00000285854",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.767G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}