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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: 4-154796781-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154796781&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBM46",
"hgnc_id": 28401,
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_144979.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.095,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24487048387527466,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_144979.5",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281722.8",
"protein_coding": true,
"protein_id": "NP_659416.1",
"strand": true,
"transcript": "NM_144979.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000281722.8",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144979.5",
"protein_coding": true,
"protein_id": "ENSP00000281722.3",
"strand": true,
"transcript": "ENST00000281722.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1458,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001277171.2",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264100.1",
"strand": true,
"transcript": "NM_001277171.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1458,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000514866.5",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424500.1",
"strand": true,
"transcript": "ENST00000514866.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 208,
"cds_end": null,
"cds_length": 1413,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001277173.2",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264102.1",
"strand": true,
"transcript": "NM_001277173.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 208,
"cds_end": null,
"cds_length": 1413,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000510397.5",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422813.1",
"strand": true,
"transcript": "ENST00000510397.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 132,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 526,
"cdna_start": 156,
"cds_end": null,
"cds_length": 399,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000512640.1",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426672.1",
"strand": true,
"transcript": "ENST00000512640.1",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 128,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531692.3",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529994.1",
"strand": true,
"transcript": "XM_011531692.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 208,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531693.3",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529995.1",
"strand": true,
"transcript": "XM_011531693.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 59,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531694.3",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529996.1",
"strand": true,
"transcript": "XM_011531694.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 82,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531695.4",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529997.1",
"strand": true,
"transcript": "XM_011531695.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 59,
"cds_end": null,
"cds_length": 1602,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531696.3",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529998.1",
"strand": true,
"transcript": "XM_011531696.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 480,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1443,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011531697.3",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529999.1",
"strand": true,
"transcript": "XM_011531697.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1413,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006714120.2",
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"hgvs_c": "c.29A>T",
"hgvs_p": "p.Asn10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714183.1",
"strand": true,
"transcript": "XM_006714120.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201983049",
"effect": "missense_variant",
"frequency_reference_population": 6.8508825e-7,
"gene_hgnc_id": 28401,
"gene_symbol": "RBM46",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85088e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.559,
"pos": 154796781,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.066,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_144979.5"
}
]
}