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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: 12-68313479-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68313479&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68313479,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000682720.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gln571Gln",
"transcript": "NM_001354969.2",
"protein_id": "NP_001341898.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 724,
"cds_start": 1713,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "ENST00000682720.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gln571Gln",
"transcript": "ENST00000682720.1",
"protein_id": "ENSP00000507100.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 724,
"cds_start": 1713,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "NM_001354969.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1683G>A",
"hgvs_p": "p.Gln561Gln",
"transcript": "ENST00000303145.11",
"protein_id": "ENSP00000302537.7",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 714,
"cds_start": 1683,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1770,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1177G>A",
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1177G>A",
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1683G>A",
"hgvs_p": "p.Gln561Gln",
"transcript": "NM_017440.6",
"protein_id": "NP_059136.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 714,
"cds_start": 1683,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1578G>A",
"hgvs_p": "p.Gln526Gln",
"transcript": "NM_001205028.3",
"protein_id": "NP_001191957.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 679,
"cds_start": 1578,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1578G>A",
"hgvs_p": "p.Gln526Gln",
"transcript": "ENST00000411698.6",
"protein_id": "ENSP00000391006.2",
"transcript_support_level": 2,
"aa_start": 526,
"aa_end": null,
"aa_length": 679,
"cds_start": 1578,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Gln521Gln",
"transcript": "NM_001354970.2",
"protein_id": "NP_001341899.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 674,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Gln291Gln",
"transcript": "NM_001354971.2",
"protein_id": "NP_001341900.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 873,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Gln291Gln",
"transcript": "NM_001354972.2",
"protein_id": "NP_001341901.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 873,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Gln291Gln",
"transcript": "NM_001354973.2",
"protein_id": "NP_001341902.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 873,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Gln291Gln",
"transcript": "NM_001368282.1",
"protein_id": "NP_001355211.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 873,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.843G>A",
"hgvs_p": "p.Gln281Gln",
"transcript": "NM_001354974.2",
"protein_id": "NP_001341903.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 434,
"cds_start": 843,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1407G>A",
"hgvs_p": "p.Gln469Gln",
"transcript": "XM_047429160.1",
"protein_id": "XP_047285116.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 622,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gln571Gln",
"transcript": "XM_011538569.2",
"protein_id": "XP_011536871.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 587,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Gln424Gln",
"transcript": "XM_047429161.1",
"protein_id": "XP_047285117.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1683G>A",
"hgvs_p": "p.Gln561Gln",
"transcript": "XM_047429162.1",
"protein_id": "XP_047285118.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 577,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Gln291Gln",
"transcript": "XM_047429163.1",
"protein_id": "XP_047285119.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 873,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1597,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.777G>A",
"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
}
],
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"dbsnp": "rs201912882",
"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": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.154,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000682720.1",
"gene_symbol": "MDM1",
"hgnc_id": 29917,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gln571Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}