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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: 1-11676926-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11676926&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11676926,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000376692.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "NM_006341.4",
"protein_id": "NP_006332.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": "ENST00000376692.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000376692.9",
"protein_id": "ENSP00000365882.4",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": "NM_006341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000376669.9",
"protein_id": "ENSP00000365857.5",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 224,
"cds_start": 254,
"cds_end": null,
"cds_length": 675,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000376672.5",
"protein_id": "ENSP00000365860.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 224,
"cds_start": 254,
"cds_end": null,
"cds_length": 675,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "NM_001127325.2",
"protein_id": "NP_001120797.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000235310.7",
"protein_id": "ENSP00000235310.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000376667.7",
"protein_id": "ENSP00000365855.3",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000456915.2",
"protein_id": "ENSP00000400982.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.344T>G",
"hgvs_p": "p.Val115Gly",
"transcript": "ENST00000445656.5",
"protein_id": "ENSP00000411807.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 196,
"cds_start": 344,
"cds_end": null,
"cds_length": 593,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "ENST00000697274.1",
"protein_id": "ENSP00000513221.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 175,
"cds_start": 254,
"cds_end": null,
"cds_length": 529,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly",
"transcript": "XM_047430782.1",
"protein_id": "XP_047286738.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 211,
"cds_start": 254,
"cds_end": null,
"cds_length": 636,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "n.1041T>G",
"hgvs_p": null,
"transcript": "ENST00000376655.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "n.369T>G",
"hgvs_p": null,
"transcript": "ENST00000376664.11",
"protein_id": null,
"transcript_support_level": 2,
"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": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "n.*73T>G",
"hgvs_p": null,
"transcript": "ENST00000697273.1",
"protein_id": "ENSP00000513220.1",
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "n.254T>G",
"hgvs_p": null,
"transcript": "ENST00000717649.1",
"protein_id": "ENSP00000520633.1",
"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": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"hgvs_c": "n.*73T>G",
"hgvs_p": null,
"transcript": "ENST00000697273.1",
"protein_id": "ENSP00000513220.1",
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAD2L2",
"gene_hgnc_id": 6764,
"dbsnp": "rs1057517674",
"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": 0.8715862035751343,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.839,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9407,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.872,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000376692.9",
"gene_symbol": "MAD2L2",
"hgnc_id": 6764,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.254T>G",
"hgvs_p": "p.Val85Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}