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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: 2-171785363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171785363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171785363,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003705.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Glu650Lys",
"transcript": "NM_003705.5",
"protein_id": "NP_003696.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 678,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003705.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Glu650Lys",
"transcript": "ENST00000422440.7",
"protein_id": "ENSP00000388658.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 678,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003705.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422440.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Glu709Lys",
"transcript": "ENST00000958780.1",
"protein_id": "ENSP00000628839.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 737,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958780.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.2035G>A",
"hgvs_p": "p.Glu679Lys",
"transcript": "ENST00000958781.1",
"protein_id": "ENSP00000628840.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 707,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958781.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000855507.1",
"protein_id": "ENSP00000525566.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 704,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855507.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Glu649Lys",
"transcript": "ENST00000855500.1",
"protein_id": "ENSP00000525560.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 677,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855500.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Glu648Lys",
"transcript": "ENST00000855509.1",
"protein_id": "ENSP00000525568.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 676,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855509.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Glu646Lys",
"transcript": "ENST00000855498.1",
"protein_id": "ENSP00000525557.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 674,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855498.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "ENST00000958784.1",
"protein_id": "ENSP00000628843.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 671,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958784.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1867G>A",
"hgvs_p": "p.Glu623Lys",
"transcript": "ENST00000855508.1",
"protein_id": "ENSP00000525567.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 651,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855508.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Glu597Lys",
"transcript": "ENST00000855503.1",
"protein_id": "ENSP00000525563.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 625,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855503.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Glu552Lys",
"transcript": "ENST00000855506.1",
"protein_id": "ENSP00000525565.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 580,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855506.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Glu525Lys",
"transcript": "ENST00000958779.1",
"protein_id": "ENSP00000628838.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 553,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958779.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Glu438Lys",
"transcript": "ENST00000958782.1",
"protein_id": "ENSP00000628841.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 466,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958782.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Glu419Lys",
"transcript": "ENST00000958783.1",
"protein_id": "ENSP00000628842.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 447,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958783.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Glu559Lys",
"transcript": "XM_047446142.1",
"protein_id": "XP_047302098.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 587,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1568G>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": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.1358G>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": null,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.1862G>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": null,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1568G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000263812.8"
}
],
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"dbsnp": "rs778800333",
"frequency_reference_population": 0.000004788335,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478834,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8462550640106201,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9052,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.879,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003705.5",
"gene_symbol": "SLC25A12",
"hgnc_id": 10982,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Glu650Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}