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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: 3-69119042-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69119042&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69119042,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198271.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met",
"transcript": "NM_198271.5",
"protein_id": "NP_938012.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 560,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420581.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198271.5"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met",
"transcript": "ENST00000420581.7",
"protein_id": "ENSP00000414670.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 560,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420581.7"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met",
"transcript": "NM_001304418.3",
"protein_id": "NP_001291347.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 560,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304418.3"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met",
"transcript": "ENST00000475434.1",
"protein_id": "ENSP00000418645.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 560,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475434.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met",
"transcript": "ENST00000489031.5",
"protein_id": "ENSP00000417210.1",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 560,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"hgvs_c": "c.294+3051A>T",
"hgvs_p": null,
"transcript": "ENST00000949407.1",
"protein_id": "ENSP00000619466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949407.1"
}
],
"gene_symbol": "LMOD3",
"gene_hgnc_id": 6649,
"dbsnp": "rs6810145",
"frequency_reference_population": 0.00094128115,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1519,
"gnomad_exomes_af": 0.000539791,
"gnomad_genomes_af": 0.00480011,
"gnomad_exomes_ac": 789,
"gnomad_genomes_ac": 730,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0029786527156829834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.633,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_198271.5",
"gene_symbol": "LMOD3",
"hgnc_id": 6649,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1313A>T",
"hgvs_p": "p.Lys438Met"
}
],
"clinvar_disease": "Nemaline myopathy 10,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Nemaline myopathy 10|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}