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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: 8-66883834-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66883834&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 66883834,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173518.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "NM_173518.5",
"protein_id": "NP_775789.3",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 681,
"cds_start": 913,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422365.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173518.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "ENST00000422365.7",
"protein_id": "ENSP00000413632.2",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 681,
"cds_start": 913,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173518.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422365.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "ENST00000396592.7",
"protein_id": "ENSP00000379837.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 590,
"cds_start": 913,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396592.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "ENST00000492775.5",
"protein_id": "ENSP00000428037.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 368,
"cds_start": 913,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492775.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.859C>G",
"hgvs_p": "p.Leu287Val",
"transcript": "ENST00000872356.1",
"protein_id": "ENSP00000542415.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 663,
"cds_start": 859,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872356.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000872355.1",
"protein_id": "ENSP00000542414.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 661,
"cds_start": 853,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872355.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "ENST00000941704.1",
"protein_id": "ENSP00000611763.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 654,
"cds_start": 913,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941704.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "NM_001136160.2",
"protein_id": "NP_001129632.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 632,
"cds_start": 913,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136160.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "ENST00000313616.5",
"protein_id": "ENSP00000317234.5",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 632,
"cds_start": 913,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313616.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "NM_001136161.2",
"protein_id": "NP_001129633.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 590,
"cds_start": 913,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136161.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "XM_011517467.4",
"protein_id": "XP_011515769.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 667,
"cds_start": 913,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517467.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.859C>G",
"hgvs_p": "p.Leu287Val",
"transcript": "XM_006716427.4",
"protein_id": "XP_006716490.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 663,
"cds_start": 859,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716427.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "XM_006716429.3",
"protein_id": "XP_006716492.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 654,
"cds_start": 913,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716429.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Leu263Val",
"transcript": "XM_011517468.3",
"protein_id": "XP_011515770.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 639,
"cds_start": 787,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517468.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val",
"transcript": "XM_011517469.3",
"protein_id": "XP_011515771.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 628,
"cds_start": 913,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517469.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "XM_005251174.3",
"protein_id": "XP_005251231.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 618,
"cds_start": 724,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251174.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "n.*541C>G",
"hgvs_p": null,
"transcript": "ENST00000415737.1",
"protein_id": "ENSP00000395867.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000415737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "n.*668C>G",
"hgvs_p": null,
"transcript": "ENST00000428734.5",
"protein_id": "ENSP00000416848.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000428734.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "n.*541C>G",
"hgvs_p": null,
"transcript": "ENST00000415737.1",
"protein_id": "ENSP00000395867.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000415737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"hgvs_c": "n.*668C>G",
"hgvs_p": null,
"transcript": "ENST00000428734.5",
"protein_id": "ENSP00000416848.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000428734.5"
}
],
"gene_symbol": "MCMDC2",
"gene_hgnc_id": 26368,
"dbsnp": "rs773320366",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3250877857208252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.521,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173518.5",
"gene_symbol": "MCMDC2",
"hgnc_id": 26368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Leu305Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}