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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: 21-34792303-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34792303&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 34792303,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000675419.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "NM_001754.5",
"protein_id": "NP_001745.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 480,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "ENST00000675419.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "ENST00000675419.1",
"protein_id": "ENSP00000501943.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 480,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "NM_001754.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "ENST00000300305.7",
"protein_id": "ENSP00000300305.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 480,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Pro398Pro",
"transcript": "ENST00000344691.8",
"protein_id": "ENSP00000340690.4",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 453,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 7274,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "n.*865G>A",
"hgvs_p": null,
"transcript": "ENST00000482318.5",
"protein_id": "ENSP00000477067.1",
"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": 1710,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "n.*865G>A",
"hgvs_p": null,
"transcript": "ENST00000482318.5",
"protein_id": "ENSP00000477067.1",
"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": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Pro398Pro",
"transcript": "NM_001001890.3",
"protein_id": "NP_001001890.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 453,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Pro334Pro",
"transcript": "ENST00000399240.5",
"protein_id": "ENSP00000382184.1",
"transcript_support_level": 3,
"aa_start": 334,
"aa_end": null,
"aa_length": 389,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "XM_011529766.3",
"protein_id": "XP_011528068.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 480,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "XM_047441007.1",
"protein_id": "XP_047296963.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 480,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Pro413Pro",
"transcript": "XM_005261068.4",
"protein_id": "XP_005261125.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 468,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Pro412Pro",
"transcript": "XM_011529767.3",
"protein_id": "XP_011528069.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 467,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Pro412Pro",
"transcript": "XM_047441009.1",
"protein_id": "XP_047296965.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 467,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Pro412Pro",
"transcript": "XM_047441010.1",
"protein_id": "XP_047296966.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 467,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Pro361Pro",
"transcript": "XM_005261069.5",
"protein_id": "XP_005261126.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 416,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Pro361Pro",
"transcript": "XM_047441011.1",
"protein_id": "XP_047296967.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 416,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Pro361Pro",
"transcript": "XM_047441012.1",
"protein_id": "XP_047296968.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 416,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 5866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Pro349Pro",
"transcript": "XM_047441013.1",
"protein_id": "XP_047296969.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 404,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 5572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Pro348Pro",
"transcript": "XM_011529768.3",
"protein_id": "XP_011528070.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 403,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Pro348Pro",
"transcript": "XM_047441014.1",
"protein_id": "XP_047296970.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 403,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Pro348Pro",
"transcript": "XM_047441015.1",
"protein_id": "XP_047296971.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 403,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"dbsnp": "rs886038488",
"frequency_reference_population": 0.000014323159,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000137032,
"gnomad_genomes_af": 0.0000200752,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.562,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP7,BP4",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP7",
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675419.1",
"gene_symbol": "RUNX1",
"hgnc_id": 10471,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro"
}
],
"clinvar_disease": "Hereditary thrombocytopenia and hematologic cancer predisposition syndrome,Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1,Inborn genetic diseases,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}