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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: 1-209622564-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209622564&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 209622564,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000228.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "NM_000228.3",
"protein_id": "NP_000219.2",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356082.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000228.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000356082.9",
"protein_id": "ENSP00000348384.3",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000228.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356082.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000367030.7",
"protein_id": "ENSP00000355997.3",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367030.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000391911.5",
"protein_id": "ENSP00000375778.1",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391911.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "NM_001017402.2",
"protein_id": "NP_001017402.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017402.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "NM_001127641.1",
"protein_id": "NP_001121113.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127641.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000887344.1",
"protein_id": "ENSP00000557403.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887344.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000887348.1",
"protein_id": "ENSP00000557407.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887348.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000887343.1",
"protein_id": "ENSP00000557402.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887343.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000962082.1",
"protein_id": "ENSP00000632141.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962082.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2643A>G",
"hgvs_p": "p.Leu881Leu",
"transcript": "ENST00000887346.1",
"protein_id": "ENSP00000557405.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2643,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887346.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2643A>G",
"hgvs_p": "p.Leu881Leu",
"transcript": "ENST00000887350.1",
"protein_id": "ENSP00000557409.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2643,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887350.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Leu827Leu",
"transcript": "ENST00000887349.1",
"protein_id": "ENSP00000557408.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887349.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2475A>G",
"hgvs_p": "p.Leu825Leu",
"transcript": "ENST00000887347.1",
"protein_id": "ENSP00000557406.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2475,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887347.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2358A>G",
"hgvs_p": "p.Leu786Leu",
"transcript": "ENST00000962083.1",
"protein_id": "ENSP00000632142.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2358,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962083.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2133A>G",
"hgvs_p": "p.Leu711Leu",
"transcript": "ENST00000887345.1",
"protein_id": "ENSP00000557404.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 992,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887345.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu",
"transcript": "XM_005273124.5",
"protein_id": "XP_005273181.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273124.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Leu827Leu",
"transcript": "XM_017001272.3",
"protein_id": "XP_016856761.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001272.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Leu827Leu",
"transcript": "XM_047420351.1",
"protein_id": "XP_047276307.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420351.1"
}
],
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"dbsnp": "rs3179860",
"frequency_reference_population": 0.14337313,
"hom_count_reference_population": 17970,
"allele_count_reference_population": 231377,
"gnomad_exomes_af": 0.146359,
"gnomad_genomes_af": 0.114683,
"gnomad_exomes_ac": 213934,
"gnomad_genomes_ac": 17443,
"gnomad_exomes_homalt": 16778,
"gnomad_genomes_homalt": 1192,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.739,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000228.3",
"gene_symbol": "LAMB3",
"hgnc_id": 6490,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Leu891Leu"
}
],
"clinvar_disease": " non-Herlitz type,Amelogenesis imperfecta type 1A,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa gravis of Herlitz,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Junctional epidermolysis bullosa|not provided|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa gravis of Herlitz",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}