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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: 8-47961149-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47961149&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47961149,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000649973.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "NM_182746.3",
"protein_id": "NP_877423.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 863,
"cds_start": 5,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "ENST00000649973.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000649973.1",
"protein_id": "ENSP00000496964.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 863,
"cds_start": 5,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "NM_182746.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000262105.6",
"protein_id": "ENSP00000262105.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 863,
"cds_start": 5,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000649838.1",
"protein_id": "ENSP00000497648.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 904,
"cds_start": 5,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "NM_005914.4",
"protein_id": "NP_005905.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 863,
"cds_start": 5,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000650216.1",
"protein_id": "ENSP00000497093.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 749,
"cds_start": 5,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 12,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000648407.1",
"protein_id": "ENSP00000497881.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 742,
"cds_start": 5,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000697122.1",
"protein_id": "ENSP00000513122.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 394,
"cds_start": 5,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 12,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"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": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp",
"transcript": "ENST00000518221.5",
"protein_id": "ENSP00000430329.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 139,
"cds_start": 5,
"cds_end": null,
"cds_length": 422,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.85C>G",
"hgvs_p": null,
"transcript": "ENST00000520994.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.5C>G",
"hgvs_p": null,
"transcript": "ENST00000524086.5",
"protein_id": "ENSP00000427829.1",
"transcript_support_level": 5,
"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": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.5C>G",
"hgvs_p": null,
"transcript": "ENST00000648519.1",
"protein_id": "ENSP00000497176.1",
"transcript_support_level": null,
"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": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.100C>G",
"hgvs_p": null,
"transcript": "ENST00000697120.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000697121.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4132,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.-81+135C>G",
"hgvs_p": null,
"transcript": "ENST00000649919.1",
"protein_id": "ENSP00000498202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"dbsnp": "rs749871553",
"frequency_reference_population": 0.0000057975494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000571303,
"gnomad_genomes_af": 0.00000657583,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6471832990646362,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.7239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.948,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649973.1",
"gene_symbol": "MCM4",
"hgnc_id": 6947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5C>G",
"hgvs_p": "p.Ser2Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}