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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: 2-171787612-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171787612&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171787612,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_003705.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1794T>A",
"hgvs_p": "p.Tyr598*",
"transcript": "NM_003705.5",
"protein_id": "NP_003696.2",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 678,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "ENST00000422440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003705.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1794T>A",
"hgvs_p": "p.Tyr598*",
"transcript": "ENST00000422440.7",
"protein_id": "ENSP00000388658.2",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 678,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "NM_003705.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422440.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1971T>A",
"hgvs_p": "p.Tyr657*",
"transcript": "ENST00000958780.1",
"protein_id": "ENSP00000628839.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 737,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958780.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1881T>A",
"hgvs_p": "p.Tyr627*",
"transcript": "ENST00000958781.1",
"protein_id": "ENSP00000628840.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 707,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958781.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1872T>A",
"hgvs_p": "p.Tyr624*",
"transcript": "ENST00000855507.1",
"protein_id": "ENSP00000525566.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 704,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855507.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1791T>A",
"hgvs_p": "p.Tyr597*",
"transcript": "ENST00000855500.1",
"protein_id": "ENSP00000525560.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 677,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855500.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1788T>A",
"hgvs_p": "p.Tyr596*",
"transcript": "ENST00000855509.1",
"protein_id": "ENSP00000525568.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 676,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855509.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1782T>A",
"hgvs_p": "p.Tyr594*",
"transcript": "ENST00000855498.1",
"protein_id": "ENSP00000525557.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 674,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855498.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1773T>A",
"hgvs_p": "p.Tyr591*",
"transcript": "ENST00000958784.1",
"protein_id": "ENSP00000628843.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 671,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958784.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1713T>A",
"hgvs_p": "p.Tyr571*",
"transcript": "ENST00000855508.1",
"protein_id": "ENSP00000525567.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 651,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855508.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1635T>A",
"hgvs_p": "p.Tyr545*",
"transcript": "ENST00000855503.1",
"protein_id": "ENSP00000525563.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 625,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855503.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1500T>A",
"hgvs_p": "p.Tyr500*",
"transcript": "ENST00000855506.1",
"protein_id": "ENSP00000525565.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 580,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855506.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1419T>A",
"hgvs_p": "p.Tyr473*",
"transcript": "ENST00000958779.1",
"protein_id": "ENSP00000628838.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 553,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958779.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1158T>A",
"hgvs_p": "p.Tyr386*",
"transcript": "ENST00000958782.1",
"protein_id": "ENSP00000628841.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 466,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958782.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1101T>A",
"hgvs_p": "p.Tyr367*",
"transcript": "ENST00000958783.1",
"protein_id": "ENSP00000628842.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 447,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958783.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1521T>A",
"hgvs_p": "p.Tyr507*",
"transcript": "XM_047446142.1",
"protein_id": "XP_047302098.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 587,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1414T>A",
"hgvs_p": null,
"transcript": "ENST00000263812.8",
"protein_id": "ENSP00000263812.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000263812.8"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.1204T>A",
"hgvs_p": null,
"transcript": "ENST00000472070.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.1708T>A",
"hgvs_p": null,
"transcript": "NR_047549.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_047549.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1414T>A",
"hgvs_p": null,
"transcript": "ENST00000263812.8",
"protein_id": "ENSP00000263812.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000263812.8"
}
],
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"dbsnp": "rs142891505",
"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": 0.4399999976158142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.037,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003705.5",
"gene_symbol": "SLC25A12",
"hgnc_id": 10982,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1794T>A",
"hgvs_p": "p.Tyr598*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}