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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: 12-68302862-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68302862&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68302862,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1760G>T",
"hgvs_p": "p.Arg587Leu",
"transcript": "NM_001354969.2",
"protein_id": "NP_001341898.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 724,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1877,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1760G>T",
"hgvs_p": "p.Arg587Leu",
"transcript": "ENST00000682720.1",
"protein_id": "ENSP00000507100.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 724,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1877,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1730G>T",
"hgvs_p": "p.Arg577Leu",
"transcript": "ENST00000303145.11",
"protein_id": "ENSP00000302537.7",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 714,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1817,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1224G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1224G>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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1730G>T",
"hgvs_p": "p.Arg577Leu",
"transcript": "NM_017440.6",
"protein_id": "NP_059136.2",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 714,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1847,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "NM_001205028.3",
"protein_id": "NP_001191957.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 679,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1742,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "ENST00000411698.6",
"protein_id": "ENSP00000391006.2",
"transcript_support_level": 2,
"aa_start": 542,
"aa_end": null,
"aa_length": 679,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1666,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1610G>T",
"hgvs_p": "p.Arg537Leu",
"transcript": "NM_001354970.2",
"protein_id": "NP_001341899.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 674,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1969,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "NM_001354971.2",
"protein_id": "NP_001341900.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 920,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1953,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "NM_001354972.2",
"protein_id": "NP_001341901.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 920,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2366,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "NM_001354973.2",
"protein_id": "NP_001341902.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 920,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1818,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "NM_001368282.1",
"protein_id": "NP_001355211.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 920,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 3227,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Arg297Leu",
"transcript": "NM_001354974.2",
"protein_id": "NP_001341903.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 434,
"cds_start": 890,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1482,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Arg4Leu",
"transcript": "ENST00000539972.5",
"protein_id": "ENSP00000445181.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 121,
"cds_start": 11,
"cds_end": null,
"cds_length": 366,
"cdna_start": 11,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1454G>T",
"hgvs_p": "p.Arg485Leu",
"transcript": "XM_047429160.1",
"protein_id": "XP_047285116.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 622,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1571,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1319G>T",
"hgvs_p": "p.Arg440Leu",
"transcript": "XM_047429161.1",
"protein_id": "XP_047285117.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 577,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1436,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "XM_047429163.1",
"protein_id": "XP_047285119.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 920,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1644,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.824G>T",
"hgvs_p": null,
"transcript": "ENST00000536313.2",
"protein_id": null,
"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": 883,
"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.135-9552C>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": "rs376113390",
"frequency_reference_population": 0.000015747535,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000016375,
"gnomad_genomes_af": 0.0000157475,
"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": 0.11628630757331848,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.272,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001354969.2",
"gene_symbol": "MDM1",
"hgnc_id": 29917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1760G>T",
"hgvs_p": "p.Arg587Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796708.1",
"gene_symbol": "ENSG00000303715",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135-9552C>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
}