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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: 8-66896253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66896253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "MCMDC2",
"hgnc_id": 26368,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_173518.5",
"verdict": "Pathogenic"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"PP5_Moderate",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SNHG6",
"hgnc_id": 32965,
"hgvs_c": "n.143G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 3,
"transcript": "ENST00000820839.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "8",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Male infertility with azoospermia or oligozoospermia due to single gene mutation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17000000178813934,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_173518.5",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000422365.7",
"protein_coding": true,
"protein_id": "NP_775789.3",
"strand": true,
"transcript": "NM_173518.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000422365.7",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173518.5",
"protein_coding": true,
"protein_id": "ENSP00000413632.2",
"strand": true,
"transcript": "ENST00000422365.7",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 590,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396592.7",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379837.3",
"strand": true,
"transcript": "ENST00000396592.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 663,
"aa_ref": "Q",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1309,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872356.1",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542415.1",
"strand": true,
"transcript": "ENST00000872356.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 661,
"aa_ref": "Q",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1303,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000872355.1",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542414.1",
"strand": true,
"transcript": "ENST00000872355.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 654,
"aa_ref": "Q",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1282,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941704.1",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611763.1",
"strand": true,
"transcript": "ENST00000941704.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 632,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001136160.2",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129632.1",
"strand": true,
"transcript": "NM_001136160.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 632,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000313616.5",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317234.5",
"strand": true,
"transcript": "ENST00000313616.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 590,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001136161.2",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129633.1",
"strand": true,
"transcript": "NM_001136161.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011517467.4",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515769.1",
"strand": true,
"transcript": "XM_011517467.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 663,
"aa_ref": "Q",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1309,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006716427.4",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716490.1",
"strand": true,
"transcript": "XM_006716427.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 654,
"aa_ref": "Q",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1282,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006716429.3",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716492.1",
"strand": true,
"transcript": "XM_006716429.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 639,
"aa_ref": "Q",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1237,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011517468.3",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Gln413*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515770.1",
"strand": true,
"transcript": "XM_011517468.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 628,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011517469.3",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515771.1",
"strand": true,
"transcript": "XM_011517469.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 618,
"aa_ref": "Q",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1174,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005251174.3",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Gln392*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251231.1",
"strand": true,
"transcript": "XM_005251174.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415737.1",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "n.*991C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395867.1",
"strand": true,
"transcript": "ENST00000415737.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000428734.5",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "n.*1118C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416848.1",
"strand": true,
"transcript": "ENST00000428734.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000820839.1",
"gene_hgnc_id": 32965,
"gene_symbol": "SNHG6",
"hgvs_c": "n.143G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000820839.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415737.1",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "n.*991C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395867.1",
"strand": true,
"transcript": "ENST00000415737.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000428734.5",
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"hgvs_c": "n.*1118C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416848.1",
"strand": true,
"transcript": "ENST00000428734.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751075073",
"effect": "stop_gained",
"frequency_reference_population": 0.0000024815097,
"gene_hgnc_id": 26368,
"gene_symbol": "MCMDC2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205513,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657212,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Male infertility with azoospermia or oligozoospermia due to single gene mutation",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.987,
"pos": 66896253,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.17,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_173518.5"
}
]
}