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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: 19-52572344-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52572344&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52572344,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_018260.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "ENST00000301093.6",
"protein_id": "ENSP00000301093.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "ENST00000540331.1",
"protein_id": "ENSP00000444339.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "ENST00000593941.5",
"protein_id": "ENSP00000471080.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 211,
"cds_start": 103,
"cds_end": null,
"cds_length": 638,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-71-1733C>T",
"hgvs_p": null,
"transcript": "NM_018260.3",
"protein_id": "NP_060730.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": "ENST00000391785.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-71-1733C>T",
"hgvs_p": null,
"transcript": "ENST00000391785.8",
"protein_id": "ENSP00000375662.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": "NM_018260.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "NM_001172655.1",
"protein_id": "NP_001166126.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "NM_001433681.1",
"protein_id": "NP_001420610.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "NM_001433682.1",
"protein_id": "NP_001420611.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "XM_047439071.1",
"protein_id": "XP_047295027.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 10808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "XM_047439072.1",
"protein_id": "XP_047295028.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 10567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "XM_047439073.1",
"protein_id": "XP_047295029.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Cys",
"transcript": "XM_047439074.1",
"protein_id": "XP_047295030.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 531,
"cds_start": 103,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 8407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-122-1682C>T",
"hgvs_p": null,
"transcript": "NM_001433683.1",
"protein_id": "NP_001420612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-185-221C>T",
"hgvs_p": null,
"transcript": "NM_001433684.1",
"protein_id": "NP_001420613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-190-748C>T",
"hgvs_p": null,
"transcript": "NM_001433685.1",
"protein_id": "NP_001420614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "c.-85-221C>T",
"hgvs_p": null,
"transcript": "ENST00000596514.5",
"protein_id": "ENSP00000472955.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"hgvs_c": "n.521-1733C>T",
"hgvs_p": null,
"transcript": "ENST00000478039.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF701",
"gene_hgnc_id": 25597,
"dbsnp": "rs970161098",
"frequency_reference_population": 0.0000132061605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000969144,
"gnomad_genomes_af": 0.0000394073,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04036566615104675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.019,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018260.3",
"gene_symbol": "ZNF701",
"hgnc_id": 25597,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-71-1733C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}