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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: 14-92454034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92454034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92454034,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000532405.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "NM_153646.4",
"protein_id": "NP_705932.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 622,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": "ENST00000532405.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "ENST00000532405.6",
"protein_id": "ENSP00000431840.1",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 622,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": "NM_153646.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275*",
"transcript": "ENST00000393265.6",
"protein_id": "ENSP00000376948.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 558,
"cds_start": 823,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204*",
"transcript": "ENST00000525557.5",
"protein_id": "ENSP00000432464.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 463,
"cds_start": 610,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "n.1269C>T",
"hgvs_p": null,
"transcript": "ENST00000526482.1",
"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": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "n.2564C>T",
"hgvs_p": null,
"transcript": "ENST00000556739.5",
"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": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "NM_001378620.1",
"protein_id": "NP_001365549.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 622,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 9846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "ENST00000676001.1",
"protein_id": "ENSP00000502715.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 622,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "NM_001425254.1",
"protein_id": "NP_001412183.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 603,
"cds_start": 958,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "NM_153647.4",
"protein_id": "NP_705933.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 603,
"cds_start": 958,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "ENST00000531433.5",
"protein_id": "ENSP00000433302.1",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 603,
"cds_start": 958,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275*",
"transcript": "NM_153648.4",
"protein_id": "NP_705934.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 558,
"cds_start": 823,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"transcript": "XM_011536436.3",
"protein_id": "XP_011534738.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 669,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367*",
"transcript": "XM_011536437.3",
"protein_id": "XP_011534739.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 650,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 10472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Arg89*",
"transcript": "XM_011536440.2",
"protein_id": "XP_011534742.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 372,
"cds_start": 265,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 9688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191*",
"transcript": "XM_005267342.2",
"protein_id": "XP_005267399.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 352,
"cds_start": 571,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"hgvs_c": "n.468C>T",
"hgvs_p": null,
"transcript": "ENST00000554925.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC24A4",
"gene_hgnc_id": 10978,
"dbsnp": "rs587777535",
"frequency_reference_population": 0.000005476601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000054766,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13500000536441803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.258,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000532405.6",
"gene_symbol": "SLC24A4",
"hgnc_id": 10978,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*"
}
],
"clinvar_disease": "Amelogenesis imperfecta hypomaturation type 2A5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Amelogenesis imperfecta hypomaturation type 2A5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}