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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: 1-209615359-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209615359&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 209615359,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000228.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "NM_000228.3",
"protein_id": "NP_000219.2",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "ENST00000356082.9",
"protein_id": "ENSP00000348384.3",
"transcript_support_level": 1,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "ENST00000367030.7",
"protein_id": "ENSP00000355997.3",
"transcript_support_level": 1,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "ENST00000391911.5",
"protein_id": "ENSP00000375778.1",
"transcript_support_level": 1,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "NM_001017402.2",
"protein_id": "NP_001017402.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "NM_001127641.1",
"protein_id": "NP_001121113.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "ENST00000887344.1",
"protein_id": "ENSP00000557403.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "ENST00000887348.1",
"protein_id": "ENSP00000557407.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3425C>T",
"hgvs_p": "p.Ser1142Leu",
"transcript": "ENST00000887343.1",
"protein_id": "ENSP00000557402.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3425,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3422C>T",
"hgvs_p": "p.Ser1141Leu",
"transcript": "ENST00000962082.1",
"protein_id": "ENSP00000632141.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3422,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3401C>T",
"hgvs_p": "p.Ser1134Leu",
"transcript": "ENST00000887346.1",
"protein_id": "ENSP00000557405.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3401,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3395C>T",
"hgvs_p": "p.Ser1132Leu",
"transcript": "ENST00000887350.1",
"protein_id": "ENSP00000557409.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3395,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Ser1080Leu",
"transcript": "ENST00000887349.1",
"protein_id": "ENSP00000557408.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3239,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3233C>T",
"hgvs_p": "p.Ser1078Leu",
"transcript": "ENST00000887347.1",
"protein_id": "ENSP00000557406.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3233,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3116C>T",
"hgvs_p": "p.Ser1039Leu",
"transcript": "ENST00000962083.1",
"protein_id": "ENSP00000632142.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3116,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.2891C>T",
"hgvs_p": "p.Ser964Leu",
"transcript": "ENST00000887345.1",
"protein_id": "ENSP00000557404.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 992,
"cds_start": 2891,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu",
"transcript": "XM_005273124.5",
"protein_id": "XP_005273181.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3431,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Ser1080Leu",
"transcript": "XM_017001272.3",
"protein_id": "XP_016856761.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3239,
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Ser1080Leu",
"transcript": "XM_047420351.1",
"protein_id": "XP_047276307.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3239,
"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": "rs869320671",
"frequency_reference_population": 6.8457985e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8458e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5185238122940063,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.1471,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.815,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000228.3",
"gene_symbol": "LAMB3",
"hgnc_id": 6490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3431C>T",
"hgvs_p": "p.Ser1144Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}