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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: 11-63651940-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63651940&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATL3",
"hgnc_id": 24526,
"hgvs_c": "c.557T>G",
"hgvs_p": "p.Leu186Arg",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015459.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LNCROPM",
"hgnc_id": 58146,
"hgvs_c": "n.553+1193A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000540307.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.9966,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " hereditary sensory, type 1F,Neuropathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9454846978187561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1626,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015459.5",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.557T>G",
"hgvs_p": "p.Leu186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398868.8",
"protein_coding": true,
"protein_id": "NP_056274.3",
"strand": false,
"transcript": "NM_015459.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1626,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000398868.8",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.557T>G",
"hgvs_p": "p.Leu186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015459.5",
"protein_coding": true,
"protein_id": "ENSP00000381844.3",
"strand": false,
"transcript": "ENST00000398868.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 540,
"aa_ref": "L",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1623,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955365.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625424.1",
"strand": false,
"transcript": "ENST00000955365.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7151,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1572,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290048.2",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276977.1",
"strand": false,
"transcript": "NM_001290048.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1572,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000538786.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437593.1",
"strand": false,
"transcript": "ENST00000538786.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 522,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6842,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1569,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440717.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.557T>G",
"hgvs_p": "p.Leu186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427646.1",
"strand": false,
"transcript": "NM_001440717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1554,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440718.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.557T>G",
"hgvs_p": "p.Leu186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427647.1",
"strand": false,
"transcript": "NM_001440718.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "L",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6794,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1521,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440719.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Leu151Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427648.1",
"strand": false,
"transcript": "NM_001440719.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7094,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1515,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440720.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427649.1",
"strand": false,
"transcript": "NM_001440720.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 593,
"aa_ref": "L",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7273,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1782,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047426725.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.713T>G",
"hgvs_p": "p.Leu238Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282681.1",
"strand": false,
"transcript": "XM_047426725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": null,
"cds_end": null,
"cds_length": 1575,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440716.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.510+531T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427645.1",
"strand": false,
"transcript": "NM_001440716.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6743,
"cdna_start": null,
"cds_end": null,
"cds_length": 1470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440721.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.406-5377T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427650.1",
"strand": false,
"transcript": "NM_001440721.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440722.1",
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"hgvs_c": "c.405+6821T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427651.1",
"strand": false,
"transcript": "NM_001440722.1",
"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": 729,
"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": "ENST00000540307.2",
"gene_hgnc_id": 58146,
"gene_symbol": "LNCROPM",
"hgvs_c": "n.553+1193A>C",
"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": "ENST00000540307.2",
"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": 714,
"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": "NR_199012.1",
"gene_hgnc_id": 58146,
"gene_symbol": "LNCROPM",
"hgvs_c": "n.538+1193A>C",
"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": "NR_199012.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs776366099",
"effect": "missense_variant",
"frequency_reference_population": 0.000003761199,
"gene_hgnc_id": 24526,
"gene_symbol": "ATL3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.000002772,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131378,
"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": "Neuropathy, hereditary sensory, type 1F",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.156,
"pos": 63651940,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.931,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015459.5"
}
]
}