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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: 4-83462773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83462773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABRAXAS1",
"hgnc_id": 25829,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Ser309Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_139076.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MRPS18C",
"hgnc_id": 16633,
"hgvs_c": "c.*36+1540C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000509970.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.0836,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0663551390171051,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 409,
"aa_ref": "S",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1230,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_139076.3",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Ser309Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321945.12",
"protein_coding": true,
"protein_id": "NP_620775.2",
"strand": false,
"transcript": "NM_139076.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 409,
"aa_ref": "S",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1230,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000321945.12",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Ser309Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139076.3",
"protein_coding": true,
"protein_id": "ENSP00000369857.3",
"strand": false,
"transcript": "ENST00000321945.12",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 405,
"aa_ref": "S",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1218,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000856950.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Ser305Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527009.1",
"strand": false,
"transcript": "ENST00000856950.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1110,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856949.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Ser269Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527008.1",
"strand": false,
"transcript": "ENST00000856949.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1083,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000506553.5",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426763.1",
"strand": false,
"transcript": "ENST00000506553.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 349,
"aa_ref": "S",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1050,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917160.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Ser249Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587219.1",
"strand": false,
"transcript": "ENST00000917160.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 322,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 741,
"cds_end": null,
"cds_length": 969,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856948.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Ser222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527007.1",
"strand": false,
"transcript": "ENST00000856948.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 318,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 681,
"cds_end": null,
"cds_length": 957,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917161.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Ser218Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587220.1",
"strand": false,
"transcript": "ENST00000917161.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4143,
"cdna_start": 887,
"cds_end": null,
"cds_length": 903,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001345962.2",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Ser200Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332891.1",
"strand": false,
"transcript": "NM_001345962.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 282,
"aa_ref": "S",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 573,
"cds_end": null,
"cds_length": 849,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949403.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Ser182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619462.1",
"strand": false,
"transcript": "ENST00000949403.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1572,
"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857155.1",
"gene_hgnc_id": 16633,
"gene_symbol": "MRPS18C",
"hgvs_c": "c.*36+1540C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527214.1",
"strand": true,
"transcript": "ENST00000857155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857156.1",
"gene_hgnc_id": 16633,
"gene_symbol": "MRPS18C",
"hgvs_c": "c.*36+1540C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527215.1",
"strand": true,
"transcript": "ENST00000857156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 112,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": null,
"cds_end": null,
"cds_length": 339,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509970.5",
"gene_hgnc_id": 16633,
"gene_symbol": "MRPS18C",
"hgvs_c": "c.*36+1540C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427014.1",
"strand": true,
"transcript": "ENST00000509970.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000475656.6",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "n.*634G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426080.1",
"strand": false,
"transcript": "ENST00000475656.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000504777.1",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "n.1200G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000504777.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000475656.6",
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"hgvs_c": "n.*634G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426080.1",
"strand": false,
"transcript": "ENST00000475656.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 442,
"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": "ENST00000509571.1",
"gene_hgnc_id": 16633,
"gene_symbol": "MRPS18C",
"hgvs_c": "n.41+1540C>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": "ENST00000509571.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1060503251",
"effect": "missense_variant",
"frequency_reference_population": 0.00000929482,
"gene_hgnc_id": 25829,
"gene_symbol": "ABRAXAS1",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000752577,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262885,
"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": "Uncertain significance",
"phenotype_combined": "not provided|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.115,
"pos": 83462773,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.053,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_139076.3"
}
]
}