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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: 4-154798037-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154798037&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 154798037,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000281722.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "NM_144979.5",
"protein_id": "NP_659416.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": "ENST00000281722.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "ENST00000281722.8",
"protein_id": "ENSP00000281722.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": "NM_144979.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "NM_001277171.2",
"protein_id": "NP_001264100.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 485,
"cds_start": 378,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "ENST00000514866.5",
"protein_id": "ENSP00000424500.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 485,
"cds_start": 378,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "NM_001277173.2",
"protein_id": "NP_001264102.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 470,
"cds_start": 378,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "ENST00000510397.5",
"protein_id": "ENSP00000422813.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 470,
"cds_start": 378,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "ENST00000512640.1",
"protein_id": "ENSP00000426672.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 132,
"cds_start": 378,
"cds_end": null,
"cds_length": 399,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531692.3",
"protein_id": "XP_011529994.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531693.3",
"protein_id": "XP_011529995.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531694.3",
"protein_id": "XP_011529996.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531695.4",
"protein_id": "XP_011529997.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531696.3",
"protein_id": "XP_011529998.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 533,
"cds_start": 378,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_011531697.3",
"protein_id": "XP_011529999.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 480,
"cds_start": 378,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met",
"transcript": "XM_006714120.2",
"protein_id": "XP_006714183.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 470,
"cds_start": 378,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM46",
"gene_hgnc_id": 28401,
"dbsnp": "rs79167802",
"frequency_reference_population": 0.01971164,
"hom_count_reference_population": 751,
"allele_count_reference_population": 31811,
"gnomad_exomes_af": 0.0198696,
"gnomad_genomes_af": 0.0181955,
"gnomad_exomes_ac": 29040,
"gnomad_genomes_ac": 2771,
"gnomad_exomes_homalt": 675,
"gnomad_genomes_homalt": 76,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020805299282073975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.7587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.622,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281722.8",
"gene_symbol": "RBM46",
"hgnc_id": 28401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.378T>G",
"hgvs_p": "p.Ile126Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}