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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: 14-92442729-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92442729&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92442729,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000532405.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "NM_153646.4",
"protein_id": "NP_705932.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 622,
"cds_start": 495,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": "ENST00000532405.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "ENST00000532405.6",
"protein_id": "ENSP00000431840.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 622,
"cds_start": 495,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": "NM_153646.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.His101His",
"transcript": "ENST00000393265.6",
"protein_id": "ENSP00000376948.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 558,
"cds_start": 303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.147T>C",
"hgvs_p": "p.His49His",
"transcript": "ENST00000525557.5",
"protein_id": "ENSP00000432464.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 463,
"cds_start": 147,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "NM_001378620.1",
"protein_id": "NP_001365549.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 622,
"cds_start": 495,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 9846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "ENST00000676001.1",
"protein_id": "ENSP00000502715.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 622,
"cds_start": 495,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "NM_001425254.1",
"protein_id": "NP_001412183.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 603,
"cds_start": 495,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "NM_153647.4",
"protein_id": "NP_705933.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 603,
"cds_start": 495,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His",
"transcript": "ENST00000531433.5",
"protein_id": "ENSP00000433302.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 603,
"cds_start": 495,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.His101His",
"transcript": "NM_153648.4",
"protein_id": "NP_705934.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 558,
"cds_start": 303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.168T>C",
"hgvs_p": "p.His56His",
"transcript": "ENST00000554461.5",
"protein_id": "ENSP00000452099.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 63,
"cds_start": 168,
"cds_end": null,
"cds_length": 192,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.636T>C",
"hgvs_p": "p.His212His",
"transcript": "XM_011536436.3",
"protein_id": "XP_011534738.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 669,
"cds_start": 636,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.636T>C",
"hgvs_p": "p.His212His",
"transcript": "XM_011536437.3",
"protein_id": "XP_011534739.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 650,
"cds_start": 636,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 10472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.168T>C",
"hgvs_p": "p.His56His",
"transcript": "XM_005267342.2",
"protein_id": "XP_005267399.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 352,
"cds_start": 168,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"dbsnp": "rs941650",
"frequency_reference_population": 0.75726897,
"hom_count_reference_population": 465347,
"allele_count_reference_population": 1221384,
"gnomad_exomes_af": 0.753857,
"gnomad_genomes_af": 0.790019,
"gnomad_exomes_ac": 1101170,
"gnomad_genomes_ac": 120214,
"gnomad_exomes_homalt": 417515,
"gnomad_genomes_homalt": 47832,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2549999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.622,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000532405.6",
"gene_symbol": "SLC24A4",
"hgnc_id": 10978,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.495T>C",
"hgvs_p": "p.His165His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}