← Back to variant description
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: 5-127438533-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=127438533&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 127438533,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000503335.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys",
"transcript": "NM_001256545.2",
"protein_id": "NP_001243474.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 7606,
"mane_select": "ENST00000503335.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys",
"transcript": "ENST00000503335.7",
"protein_id": "ENSP00000423354.2",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 7606,
"mane_select": "NM_001256545.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys",
"transcript": "ENST00000274473.6",
"protein_id": "ENSP00000274473.6",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 7594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys",
"transcript": "NM_032446.3",
"protein_id": "NP_115822.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Cys788Cys",
"transcript": "XM_017009987.2",
"protein_id": "XP_016865476.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2364,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 8153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys",
"transcript": "XM_011543694.1",
"protein_id": "XP_011541996.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "c.1059C>T",
"hgvs_p": "p.Cys353Cys",
"transcript": "XM_017009988.2",
"protein_id": "XP_016865477.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 760,
"cds_start": 1059,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 5460,
"cdna_end": null,
"cdna_length": 10588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"hgvs_c": "n.440C>T",
"hgvs_p": null,
"transcript": "ENST00000506709.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEGF10",
"gene_hgnc_id": 29634,
"dbsnp": "rs35591368",
"frequency_reference_population": 0.030756202,
"hom_count_reference_population": 854,
"allele_count_reference_population": 49641,
"gnomad_exomes_af": 0.0312494,
"gnomad_genomes_af": 0.026022,
"gnomad_exomes_ac": 45678,
"gnomad_genomes_ac": 3963,
"gnomad_exomes_homalt": 805,
"gnomad_genomes_homalt": 49,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.287,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000503335.7",
"gene_symbol": "MEGF10",
"hgnc_id": 29634,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Cys733Cys"
}
],
"clinvar_disease": "MEGF10-related myopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|MEGF10-related myopathy|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}