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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: 5-150676831-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150676831&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150676831,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_133371.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "NM_001122853.3",
"protein_id": "NP_001116325.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "ENST00000517768.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122853.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000517768.6",
"protein_id": "ENSP00000428815.1",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "NM_001122853.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517768.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000297130.4",
"protein_id": "ENSP00000297130.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297130.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "n.758G>A",
"hgvs_p": null,
"transcript": "ENST00000456566.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000456566.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "NM_133371.5",
"protein_id": "NP_588612.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133371.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000873985.1",
"protein_id": "ENSP00000544044.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873985.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000916726.1",
"protein_id": "ENSP00000586785.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916726.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr",
"transcript": "ENST00000948707.1",
"protein_id": "ENSP00000618766.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 251,
"cds_start": 712,
"cds_end": null,
"cds_length": 756,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948707.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Gly154Asp",
"transcript": "ENST00000520112.1",
"protein_id": "ENSP00000429439.1",
"transcript_support_level": 4,
"aa_start": 154,
"aa_end": null,
"aa_length": 159,
"cds_start": 461,
"cds_end": null,
"cds_length": 480,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"hgvs_c": "n.539G>A",
"hgvs_p": null,
"transcript": "ENST00000521300.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521300.1"
}
],
"gene_symbol": "MYOZ3",
"gene_hgnc_id": 18565,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6077341437339783,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.42,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.828,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133371.5",
"gene_symbol": "MYOZ3",
"hgnc_id": 18565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Ala238Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}