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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: 9-131009582-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131009582&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131009582,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006059.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "NM_006059.4",
"protein_id": "NP_006050.3",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1575,
"cds_start": 368,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361069.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006059.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000361069.9",
"protein_id": "ENSP00000354360.4",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 1575,
"cds_start": 368,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006059.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361069.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000868026.1",
"protein_id": "ENSP00000538085.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1581,
"cds_start": 368,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868026.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000955224.1",
"protein_id": "ENSP00000625283.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1573,
"cds_start": 368,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955224.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000955225.1",
"protein_id": "ENSP00000625284.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1567,
"cds_start": 368,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955225.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000955223.1",
"protein_id": "ENSP00000625282.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1542,
"cds_start": 368,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955223.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "ENST00000940484.1",
"protein_id": "ENSP00000610543.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1472,
"cds_start": 368,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940484.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "XM_011518121.2",
"protein_id": "XP_011516423.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1581,
"cds_start": 368,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518121.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu",
"transcript": "XM_006716921.3",
"protein_id": "XP_006716984.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 1259,
"cds_start": 368,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716921.3"
}
],
"gene_symbol": "LAMC3",
"gene_hgnc_id": 6494,
"dbsnp": "rs140461419",
"frequency_reference_population": 0.0004889627,
"hom_count_reference_population": 3,
"allele_count_reference_population": 768,
"gnomad_exomes_af": 0.000250276,
"gnomad_genomes_af": 0.00271289,
"gnomad_exomes_ac": 355,
"gnomad_genomes_ac": 413,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01601928472518921,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0979,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.348,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006059.4",
"gene_symbol": "LAMC3",
"hgnc_id": 6494,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Arg123Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}