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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: 10-13172427-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13172427&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13172427,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378714.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "NM_018518.5",
"protein_id": "NP_060988.3",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 874,
"cds_start": 401,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "ENST00000378714.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "ENST00000378714.8",
"protein_id": "ENSP00000367986.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 874,
"cds_start": 401,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": "NM_018518.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "ENST00000484800.6",
"protein_id": "ENSP00000418268.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 875,
"cds_start": 401,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "NM_182751.3",
"protein_id": "NP_877428.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 875,
"cds_start": 401,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "ENST00000378694.1",
"protein_id": "ENSP00000367966.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 855,
"cds_start": 401,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000479669.5",
"protein_id": "ENSP00000417094.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 68,
"cds_start": 161,
"cds_end": null,
"cds_length": 208,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "XM_011519538.3",
"protein_id": "XP_011517840.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 875,
"cds_start": 401,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "XM_047425437.1",
"protein_id": "XP_047281393.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 874,
"cds_start": 401,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCM10",
"gene_hgnc_id": 18043,
"dbsnp": "rs17152897",
"frequency_reference_population": 0.053962465,
"hom_count_reference_population": 2708,
"allele_count_reference_population": 87087,
"gnomad_exomes_af": 0.0551687,
"gnomad_genomes_af": 0.0423878,
"gnomad_exomes_ac": 80631,
"gnomad_genomes_ac": 6456,
"gnomad_exomes_homalt": 2522,
"gnomad_genomes_homalt": 186,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015130937099456787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.569,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": "ENST00000378714.8",
"gene_symbol": "MCM10",
"hgnc_id": 18043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}