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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: 6-129328306-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=129328306&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 129328306,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000421865.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.4205G>A",
"hgvs_p": "p.Arg1402His",
"transcript": "NM_000426.4",
"protein_id": "NP_000417.3",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 3122,
"cds_start": 4205,
"cds_end": null,
"cds_length": 9369,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": "ENST00000421865.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.4205G>A",
"hgvs_p": "p.Arg1402His",
"transcript": "ENST00000421865.3",
"protein_id": "ENSP00000400365.2",
"transcript_support_level": 5,
"aa_start": 1402,
"aa_end": null,
"aa_length": 3122,
"cds_start": 4205,
"cds_end": null,
"cds_length": 9369,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": "NM_000426.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.4469G>A",
"hgvs_p": "p.Arg1490His",
"transcript": "ENST00000618192.5",
"protein_id": "ENSP00000480802.2",
"transcript_support_level": 5,
"aa_start": 1490,
"aa_end": null,
"aa_length": 3210,
"cds_start": 4469,
"cds_end": null,
"cds_length": 9633,
"cdna_start": 4577,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.4205G>A",
"hgvs_p": "p.Arg1402His",
"transcript": "NM_001079823.2",
"protein_id": "NP_001073291.2",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 3118,
"cds_start": 4205,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"hgvs_c": "c.4205G>A",
"hgvs_p": "p.Arg1402His",
"transcript": "ENST00000617695.5",
"protein_id": "ENSP00000481744.2",
"transcript_support_level": 5,
"aa_start": 1402,
"aa_end": null,
"aa_length": 3118,
"cds_start": 4205,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMA2",
"gene_hgnc_id": 6482,
"dbsnp": "rs144830879",
"frequency_reference_population": 0.00013691687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 221,
"gnomad_exomes_af": 0.000126552,
"gnomad_genomes_af": 0.000236416,
"gnomad_exomes_ac": 185,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02532374858856201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.318,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000421865.3",
"gene_symbol": "LAMA2",
"hgnc_id": 6482,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4205G>A",
"hgvs_p": "p.Arg1402His"
}
],
"clinvar_disease": " autosomal recessive 23, limb-girdle,Congenital muscular dystrophy due to partial LAMA2 deficiency,Inborn genetic diseases,LAMA2-related muscular dystrophy,Merosin deficient congenital muscular dystrophy,Muscular dystrophy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 B:1",
"phenotype_combined": "Congenital muscular dystrophy due to partial LAMA2 deficiency|LAMA2-related muscular dystrophy|Merosin deficient congenital muscular dystrophy;Muscular dystrophy, limb-girdle, autosomal recessive 23|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}