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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: 16-68927079-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68927079&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68927079,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_024562.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "NM_024562.2",
"protein_id": "NP_078838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261778.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024562.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "ENST00000261778.2",
"protein_id": "ENSP00000261778.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024562.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261778.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "ENST00000953309.1",
"protein_id": "ENSP00000623368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953309.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2224-489T>C",
"hgvs_p": null,
"transcript": "ENST00000953308.1",
"protein_id": "ENSP00000623367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1126,
"cds_start": null,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "ENST00000915345.1",
"protein_id": "ENSP00000585404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": null,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "ENST00000883665.1",
"protein_id": "ENSP00000553724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2125-489T>C",
"hgvs_p": null,
"transcript": "ENST00000883666.1",
"protein_id": "ENSP00000553725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2119-489T>C",
"hgvs_p": null,
"transcript": "ENST00000953310.1",
"protein_id": "ENSP00000623369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "ENST00000883664.1",
"protein_id": "ENSP00000553723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.1951-489T>C",
"hgvs_p": null,
"transcript": "ENST00000883663.1",
"protein_id": "ENSP00000553722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.1228-489T>C",
"hgvs_p": null,
"transcript": "ENST00000915346.1",
"protein_id": "ENSP00000585405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": null,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "XM_047434632.1",
"protein_id": "XP_047290588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": null,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null,
"transcript": "XM_011523327.4",
"protein_id": "XP_011521629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523327.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.715-489T>C",
"hgvs_p": null,
"transcript": "XM_047434633.1",
"protein_id": "XP_047290589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "c.715-489T>C",
"hgvs_p": null,
"transcript": "XM_047434634.1",
"protein_id": "XP_047290590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"hgvs_c": "n.*289-489T>C",
"hgvs_p": null,
"transcript": "ENST00000561856.1",
"protein_id": "ENSP00000463426.1",
"transcript_support_level": 4,
"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": "ENST00000561856.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U7",
"gene_hgnc_id": null,
"hgvs_c": "n.-122A>G",
"hgvs_p": null,
"transcript": "ENST00000610841.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "snRNA",
"feature": "ENST00000610841.1"
}
],
"gene_symbol": "TANGO6",
"gene_hgnc_id": 25749,
"dbsnp": "rs10500547",
"frequency_reference_population": 0.17102729,
"hom_count_reference_population": 2571,
"allele_count_reference_population": 26644,
"gnomad_exomes_af": 0.110802,
"gnomad_genomes_af": 0.172449,
"gnomad_exomes_ac": 398,
"gnomad_genomes_ac": 26246,
"gnomad_exomes_homalt": 32,
"gnomad_genomes_homalt": 2539,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.014,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_024562.2",
"gene_symbol": "TANGO6",
"hgnc_id": 25749,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2128-489T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000610841.1",
"gene_symbol": "U7",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-122A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}