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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: 12-21635574-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21635574&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LDHB",
"hgnc_id": 6541,
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001315537.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285854",
"hgnc_id": null,
"hgvs_c": "n.837+1497T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000647960.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8341,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "12",
"clinvar_classification": "Affects",
"clinvar_disease": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9262309074401855,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002300.8",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350669.5",
"protein_coding": true,
"protein_id": "NP_002291.1",
"strand": false,
"transcript": "NM_002300.8",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000350669.5",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002300.8",
"protein_coding": true,
"protein_id": "ENSP00000229319.1",
"strand": false,
"transcript": "ENST00000350669.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 678,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000470985.3",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "n.446T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470985.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647960.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285854",
"hgvs_c": "n.837+1497T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497202.1",
"strand": false,
"transcript": "ENST00000647960.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1026,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001315537.2",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001302466.1",
"strand": false,
"transcript": "NM_001315537.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1026,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673047.2",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500484.2",
"strand": false,
"transcript": "ENST00000673047.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001174097.3",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167568.1",
"strand": false,
"transcript": "NM_001174097.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396076.5",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379386.1",
"strand": false,
"transcript": "ENST00000396076.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895165.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565224.1",
"strand": false,
"transcript": "ENST00000895165.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000895166.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565225.1",
"strand": false,
"transcript": "ENST00000895166.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000895167.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565226.1",
"strand": false,
"transcript": "ENST00000895167.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000895168.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565227.1",
"strand": false,
"transcript": "ENST00000895168.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895169.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565228.1",
"strand": false,
"transcript": "ENST00000895169.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 4113,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895170.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565229.1",
"strand": false,
"transcript": "ENST00000895170.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895171.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565230.1",
"strand": false,
"transcript": "ENST00000895171.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915334.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585393.1",
"strand": false,
"transcript": "ENST00000915334.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915335.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585394.1",
"strand": false,
"transcript": "ENST00000915335.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915336.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585395.1",
"strand": false,
"transcript": "ENST00000915336.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1094,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915337.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585396.1",
"strand": false,
"transcript": "ENST00000915337.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1005,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944678.1",
"gene_hgnc_id": 6541,
"gene_symbol": "LDHB",
"hgvs_c": "c.973T>C",
"hgvs_p": "p.Trp325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614737.1",
"strand": false,
"transcript": "ENST00000944678.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "W",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 1236,
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