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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: 19-42370749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42370749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42370749,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000251268.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.7054G>A",
"hgvs_p": "p.Val2352Met",
"transcript": "NM_001271938.2",
"protein_id": "NP_001258867.1",
"transcript_support_level": null,
"aa_start": 2352,
"aa_end": null,
"aa_length": 2845,
"cds_start": 7054,
"cds_end": null,
"cds_length": 8538,
"cdna_start": 7663,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": "ENST00000251268.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.7054G>A",
"hgvs_p": "p.Val2352Met",
"transcript": "ENST00000251268.11",
"protein_id": "ENSP00000251268.5",
"transcript_support_level": 5,
"aa_start": 2352,
"aa_end": null,
"aa_length": 2845,
"cds_start": 7054,
"cds_end": null,
"cds_length": 8538,
"cdna_start": 7663,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": "NM_001271938.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.6853G>A",
"hgvs_p": "p.Val2285Met",
"transcript": "ENST00000334370.8",
"protein_id": "ENSP00000334219.4",
"transcript_support_level": 1,
"aa_start": 2285,
"aa_end": null,
"aa_length": 2778,
"cds_start": 6853,
"cds_end": null,
"cds_length": 8337,
"cdna_start": 7488,
"cdna_end": null,
"cdna_length": 10966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Met",
"transcript": "ENST00000593647.1",
"protein_id": "ENSP00000470620.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 313,
"cds_end": null,
"cds_length": 537,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000378073.5",
"protein_id": "ENSP00000367313.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.6853G>A",
"hgvs_p": "p.Val2285Met",
"transcript": "NM_001410.3",
"protein_id": "NP_001401.2",
"transcript_support_level": null,
"aa_start": 2285,
"aa_end": null,
"aa_length": 2778,
"cds_start": 6853,
"cds_end": null,
"cds_length": 8337,
"cdna_start": 7462,
"cdna_end": null,
"cdna_length": 10936,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "n.122G>A",
"hgvs_p": null,
"transcript": "ENST00000599787.1",
"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": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000378073.5",
"protein_id": "ENSP00000367313.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"hgvs_c": "c.160-7951G>A",
"hgvs_p": null,
"transcript": "ENST00000598762.1",
"protein_id": "ENSP00000471370.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEGF8",
"gene_hgnc_id": 3233,
"dbsnp": "rs112167630",
"frequency_reference_population": 0.022825498,
"hom_count_reference_population": 500,
"allele_count_reference_population": 36103,
"gnomad_exomes_af": 0.0235171,
"gnomad_genomes_af": 0.0162661,
"gnomad_exomes_ac": 33649,
"gnomad_genomes_ac": 2454,
"gnomad_exomes_homalt": 469,
"gnomad_genomes_homalt": 31,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008328646421432495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2446,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.544,
"phylop100way_prediction": "Pathogenic",
"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": "ENST00000251268.11",
"gene_symbol": "MEGF8",
"hgnc_id": 3233,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7054G>A",
"hgvs_p": "p.Val2352Met"
}
],
"clinvar_disease": "MEGF8-related Carpenter syndrome,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": "MEGF8-related Carpenter syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}