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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: 12-68295294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68295294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68295294,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001354969.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2135G>T",
"hgvs_p": "p.Arg712Leu",
"transcript": "NM_001354969.2",
"protein_id": "NP_001341898.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 724,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "ENST00000682720.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2135G>T",
"hgvs_p": "p.Arg712Leu",
"transcript": "ENST00000682720.1",
"protein_id": "ENSP00000507100.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 724,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "NM_001354969.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2105G>T",
"hgvs_p": "p.Arg702Leu",
"transcript": "ENST00000303145.11",
"protein_id": "ENSP00000302537.7",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 714,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2918,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1599G>T",
"hgvs_p": null,
"transcript": "ENST00000540418.5",
"protein_id": "ENSP00000443815.2",
"transcript_support_level": 1,
"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": 2507,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1599G>T",
"hgvs_p": null,
"transcript": "ENST00000540418.5",
"protein_id": "ENSP00000443815.2",
"transcript_support_level": 1,
"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": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2105G>T",
"hgvs_p": "p.Arg702Leu",
"transcript": "NM_017440.6",
"protein_id": "NP_059136.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 714,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2000G>T",
"hgvs_p": "p.Arg667Leu",
"transcript": "NM_001205028.3",
"protein_id": "NP_001191957.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 679,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.2000G>T",
"hgvs_p": "p.Arg667Leu",
"transcript": "ENST00000411698.6",
"protein_id": "ENSP00000391006.2",
"transcript_support_level": 2,
"aa_start": 667,
"aa_end": null,
"aa_length": 679,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Arg662Leu",
"transcript": "NM_001354970.2",
"protein_id": "NP_001341899.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 674,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "NM_001354971.2",
"protein_id": "NP_001341900.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 444,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "NM_001354972.2",
"protein_id": "NP_001341901.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 444,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "NM_001354973.2",
"protein_id": "NP_001341902.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 444,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "NM_001368282.1",
"protein_id": "NP_001355211.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 444,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Arg422Leu",
"transcript": "NM_001354974.2",
"protein_id": "NP_001341903.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 434,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.326G>T",
"hgvs_p": "p.Arg109Leu",
"transcript": "ENST00000539972.5",
"protein_id": "ENSP00000445181.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 121,
"cds_start": 326,
"cds_end": null,
"cds_length": 366,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1829G>T",
"hgvs_p": "p.Arg610Leu",
"transcript": "XM_047429160.1",
"protein_id": "XP_047285116.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "XM_047429161.1",
"protein_id": "XP_047285117.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 577,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "XM_047429163.1",
"protein_id": "XP_047285119.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 444,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 2747,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.28G>T",
"hgvs_p": null,
"transcript": "ENST00000357874.3",
"protein_id": "ENSP00000350544.3",
"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": 393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303715",
"gene_hgnc_id": null,
"hgvs_c": "n.135-17120C>A",
"hgvs_p": null,
"transcript": "ENST00000796708.1",
"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": 368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"dbsnp": "rs539072155",
"frequency_reference_population": 0.000025420997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000260169,
"gnomad_genomes_af": 0.0000197044,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4610876739025116,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.531,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.013,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001354969.2",
"gene_symbol": "MDM1",
"hgnc_id": 29917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2135G>T",
"hgvs_p": "p.Arg712Leu"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796708.1",
"gene_symbol": "ENSG00000303715",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135-17120C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}