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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: 20-5994321-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=5994321&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 5994321,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001281521.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2453T>C",
"hgvs_p": "p.Ile818Thr",
"transcript": "NM_032485.6",
"protein_id": "NP_115874.3",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 840,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610722.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032485.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2453T>C",
"hgvs_p": "p.Ile818Thr",
"transcript": "ENST00000610722.4",
"protein_id": "ENSP00000478141.1",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 840,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032485.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610722.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2573T>C",
"hgvs_p": "p.Ile858Thr",
"transcript": "ENST00000378886.6",
"protein_id": "ENSP00000368164.2",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 880,
"cds_start": 2573,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378886.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2453T>C",
"hgvs_p": "p.Ile818Thr",
"transcript": "ENST00000378896.7",
"protein_id": "ENSP00000368174.3",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 840,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378896.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2405T>C",
"hgvs_p": "p.Ile802Thr",
"transcript": "ENST00000265187.4",
"protein_id": "ENSP00000265187.4",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 824,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265187.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2312T>C",
"hgvs_p": "p.Ile771Thr",
"transcript": "ENST00000378883.5",
"protein_id": "ENSP00000368161.1",
"transcript_support_level": 1,
"aa_start": 771,
"aa_end": null,
"aa_length": 793,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378883.5"
},
{
"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": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286235",
"gene_hgnc_id": null,
"hgvs_c": "c.2430+626T>C",
"hgvs_p": null,
"transcript": "ENST00000652720.1",
"protein_id": "ENSP00000498784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": null,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652720.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2573T>C",
"hgvs_p": "p.Ile858Thr",
"transcript": "NM_001281521.2",
"protein_id": "NP_001268450.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 880,
"cds_start": 2573,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281521.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2453T>C",
"hgvs_p": "p.Ile818Thr",
"transcript": "NM_001281520.2",
"protein_id": "NP_001268449.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 840,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281520.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2453T>C",
"hgvs_p": "p.Ile818Thr",
"transcript": "ENST00000931170.1",
"protein_id": "ENSP00000601229.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 840,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931170.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2405T>C",
"hgvs_p": "p.Ile802Thr",
"transcript": "NM_182802.3",
"protein_id": "NP_877954.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 824,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182802.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2405T>C",
"hgvs_p": "p.Ile802Thr",
"transcript": "ENST00000931171.1",
"protein_id": "ENSP00000601230.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 824,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931171.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2312T>C",
"hgvs_p": "p.Ile771Thr",
"transcript": "NM_001281522.2",
"protein_id": "NP_001268451.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 793,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281522.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2573T>C",
"hgvs_p": "p.Ile858Thr",
"transcript": "XM_017028105.2",
"protein_id": "XP_016883594.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 880,
"cds_start": 2573,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028105.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"hgvs_c": "c.2312T>C",
"hgvs_p": "p.Ile771Thr",
"transcript": "XM_047440552.1",
"protein_id": "XP_047296508.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 793,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MCM8-AS1",
"gene_hgnc_id": 51230,
"hgvs_c": "n.327-397A>G",
"hgvs_p": null,
"transcript": "ENST00000613522.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000613522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCM8-AS1",
"gene_hgnc_id": 51230,
"hgvs_c": "n.45-2853A>G",
"hgvs_p": null,
"transcript": "ENST00000723982.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000723982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MCM8-AS1",
"gene_hgnc_id": 51230,
"hgvs_c": "n.327-397A>G",
"hgvs_p": null,
"transcript": "NR_110101.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110101.1"
}
],
"gene_symbol": "MCM8",
"gene_hgnc_id": 16147,
"dbsnp": "rs1255666023",
"frequency_reference_population": 0.0000062416752,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000620708,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8777883052825928,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2313,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.572,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001281521.2",
"gene_symbol": "MCM8",
"hgnc_id": 16147,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2573T>C",
"hgvs_p": "p.Ile858Thr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652720.1",
"gene_symbol": "ENSG00000286235",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2430+626T>C",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000613522.1",
"gene_symbol": "MCM8-AS1",
"hgnc_id": 51230,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327-397A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}