← 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: 1-24074229-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24074229&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYOM3",
"hgnc_id": 26679,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Ser",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_152372.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYOM3-AS1",
"hgnc_id": 41158,
"hgvs_c": "n.69+7387C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000429191.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000225315",
"hgnc_id": null,
"hgvs_c": "n.404+9956C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000439239.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 20,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8678,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9420319199562073,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 3022,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_152372.4",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374434.4",
"protein_coding": true,
"protein_id": "NP_689585.3",
"strand": false,
"transcript": "NM_152372.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 3022,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000374434.4",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152372.4",
"protein_coding": true,
"protein_id": "ENSP00000363557.3",
"strand": false,
"transcript": "ENST00000374434.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "G",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5864,
"cdna_start": 3127,
"cds_end": null,
"cds_length": 4374,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958997.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2959G>A",
"hgvs_p": "p.Gly987Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629056.1",
"strand": false,
"transcript": "ENST00000958997.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 3388,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000959000.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629059.1",
"strand": false,
"transcript": "ENST00000959000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "G",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5755,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 4311,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000958999.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629058.1",
"strand": false,
"transcript": "ENST00000958999.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "G",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5746,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958998.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Gly949Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629057.1",
"strand": false,
"transcript": "ENST00000958998.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "G",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 2996,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000958996.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "c.2818G>A",
"hgvs_p": "p.Gly940Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629055.1",
"strand": false,
"transcript": "ENST00000958996.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429191.1",
"gene_hgnc_id": 41158,
"gene_symbol": "MYOM3-AS1",
"hgvs_c": "n.69+7387C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000429191.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 454,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439239.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000225315",
"hgvs_c": "n.404+9956C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439239.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 418,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448831.1",
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"hgvs_c": "n.187+9717G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000448831.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 259,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001737930.2",
"gene_hgnc_id": 41158,
"gene_symbol": "MYOM3-AS1",
"hgvs_c": "n.81+7387C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001737930.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200099929",
"effect": "missense_variant",
"frequency_reference_population": 0.000012392234,
"gene_hgnc_id": 26679,
"gene_symbol": "MYOM3",
"gnomad_exomes_ac": 12,
"gnomad_exomes_af": 0.00000820881,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000526074,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.111,
"pos": 24074229,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.8,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152372.4"
}
]
}