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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: 12-53669254-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53669254&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53669254,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394349.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "NM_005176.7",
"protein_id": "NP_005167.3",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 632,
"mane_select": "ENST00000394349.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "ENST00000394349.9",
"protein_id": "ENSP00000377878.5",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 632,
"mane_select": "NM_005176.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "ENST00000552242.5",
"protein_id": "ENSP00000448801.2",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 1950,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.1612G>C",
"hgvs_p": null,
"transcript": "ENST00000495596.5",
"protein_id": null,
"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": 1976,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.479G>C",
"hgvs_p": null,
"transcript": "ENST00000552120.1",
"protein_id": null,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Asp85His",
"transcript": "NM_001002031.4",
"protein_id": "NP_001002031.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 157,
"cds_start": 253,
"cds_end": null,
"cds_length": 474,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Asp85His",
"transcript": "ENST00000673498.1",
"protein_id": "ENSP00000499883.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 157,
"cds_start": 253,
"cds_end": null,
"cds_length": 474,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "NM_001330269.2",
"protein_id": "NP_001317198.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "NM_001369753.1",
"protein_id": "NP_001356682.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "NM_001369754.1",
"protein_id": "NP_001356683.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "NM_001369755.1",
"protein_id": "NP_001356684.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "ENST00000338662.6",
"protein_id": "ENSP00000340315.6",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "ENST00000549164.5",
"protein_id": "ENSP00000447317.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.199G>C",
"hgvs_p": "p.Asp67His",
"transcript": "NM_001369758.1",
"protein_id": "NP_001356687.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 139,
"cds_start": 199,
"cds_end": null,
"cds_length": 420,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Asp31His",
"transcript": "NM_001369756.1",
"protein_id": "NP_001356685.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 103,
"cds_start": 91,
"cds_end": null,
"cds_length": 312,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His",
"transcript": "XM_047428989.1",
"protein_id": "XP_047284945.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 141,
"cds_start": 205,
"cds_end": null,
"cds_length": 426,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Ser31Ser",
"transcript": "NM_001369757.1",
"protein_id": "NP_001356686.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 143,
"cds_start": 93,
"cds_end": null,
"cds_length": 432,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 750,
"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": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.433G>C",
"hgvs_p": null,
"transcript": "NR_163135.1",
"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": 798,
"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": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.265G>C",
"hgvs_p": null,
"transcript": "NR_163136.1",
"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": 630,
"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": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.271G>C",
"hgvs_p": null,
"transcript": "NR_163137.1",
"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": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-171G>C",
"hgvs_p": null,
"transcript": "ENST00000549748.2",
"protein_id": "ENSP00000447643.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": -4,
"cds_end": null,
"cds_length": 51,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.-42G>C",
"hgvs_p": null,
"transcript": "ENST00000550241.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"dbsnp": "rs781062050",
"frequency_reference_population": 0.000002736315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273632,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8147494792938232,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.565,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8332,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394349.9",
"gene_symbol": "ATP5MC2",
"hgnc_id": 842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Asp69His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}