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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: 12-68295336-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68295336&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68295336,
"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.2093G>T",
"hgvs_p": "p.Arg698Leu",
"transcript": "NM_001354969.2",
"protein_id": "NP_001341898.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 724,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2210,
"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.2093G>T",
"hgvs_p": "p.Arg698Leu",
"transcript": "ENST00000682720.1",
"protein_id": "ENSP00000507100.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 724,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2210,
"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.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "ENST00000303145.11",
"protein_id": "ENSP00000302537.7",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 714,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2150,
"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.*1557G>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.*1557G>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.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "NM_017440.6",
"protein_id": "NP_059136.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 714,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2180,
"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.1958G>T",
"hgvs_p": "p.Arg653Leu",
"transcript": "NM_001205028.3",
"protein_id": "NP_001191957.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 679,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2075,
"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.1958G>T",
"hgvs_p": "p.Arg653Leu",
"transcript": "ENST00000411698.6",
"protein_id": "ENSP00000391006.2",
"transcript_support_level": 2,
"aa_start": 653,
"aa_end": null,
"aa_length": 679,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1999,
"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.1943G>T",
"hgvs_p": "p.Arg648Leu",
"transcript": "NM_001354970.2",
"protein_id": "NP_001341899.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 674,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2302,
"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.1253G>T",
"hgvs_p": "p.Arg418Leu",
"transcript": "NM_001354971.2",
"protein_id": "NP_001341900.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2286,
"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.1253G>T",
"hgvs_p": "p.Arg418Leu",
"transcript": "NM_001354972.2",
"protein_id": "NP_001341901.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2699,
"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.1253G>T",
"hgvs_p": "p.Arg418Leu",
"transcript": "NM_001354973.2",
"protein_id": "NP_001341902.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2151,
"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.1253G>T",
"hgvs_p": "p.Arg418Leu",
"transcript": "NM_001368282.1",
"protein_id": "NP_001355211.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 3560,
"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.1223G>T",
"hgvs_p": "p.Arg408Leu",
"transcript": "NM_001354974.2",
"protein_id": "NP_001341903.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 434,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1815,
"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.284G>T",
"hgvs_p": "p.Arg95Leu",
"transcript": "ENST00000539972.5",
"protein_id": "ENSP00000445181.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 121,
"cds_start": 284,
"cds_end": null,
"cds_length": 366,
"cdna_start": 284,
"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.1787G>T",
"hgvs_p": "p.Arg596Leu",
"transcript": "XM_047429160.1",
"protein_id": "XP_047285116.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 622,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1904,
"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.1652G>T",
"hgvs_p": "p.Arg551Leu",
"transcript": "XM_047429161.1",
"protein_id": "XP_047285117.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 577,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1769,
"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.1253G>T",
"hgvs_p": "p.Arg418Leu",
"transcript": "XM_047429163.1",
"protein_id": "XP_047285119.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1977,
"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": 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.135-17078C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.-15G>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
}
],
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"dbsnp": "rs139465924",
"frequency_reference_population": 0.0000024803617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136938,
"gnomad_genomes_af": 0.0000131449,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4572823643684387,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.2241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.351,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.16,
"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": "NM_001354969.2",
"gene_symbol": "MDM1",
"hgnc_id": 29917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2093G>T",
"hgvs_p": "p.Arg698Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796708.1",
"gene_symbol": "ENSG00000303715",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135-17078C>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
}