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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: 19-36006491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36006491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36006491,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000324444.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "NM_001039876.3",
"protein_id": "NP_001034965.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 404,
"cds_start": 799,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "ENST00000324444.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000324444.9",
"protein_id": "ENSP00000316130.3",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 404,
"cds_start": 799,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "NM_001039876.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000340477.9",
"protein_id": "ENSP00000343152.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 291,
"cds_start": 460,
"cds_end": null,
"cds_length": 876,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001297735.3",
"protein_id": "NP_001284664.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 291,
"cds_start": 460,
"cds_end": null,
"cds_length": 876,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Trp",
"transcript": "XM_047438344.1",
"protein_id": "XP_047294300.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 356,
"cds_start": 655,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Trp",
"transcript": "XM_047438345.1",
"protein_id": "XP_047294301.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 324,
"cds_start": 559,
"cds_end": null,
"cds_length": 975,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"transcript": "XM_047438347.1",
"protein_id": "XP_047294303.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 276,
"cds_start": 415,
"cds_end": null,
"cds_length": 831,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Trp",
"transcript": "XM_047438350.1",
"protein_id": "XP_047294306.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 211,
"cds_start": 220,
"cds_end": null,
"cds_length": 636,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "n.911C>T",
"hgvs_p": null,
"transcript": "ENST00000465425.2",
"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": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.688+111C>T",
"hgvs_p": null,
"transcript": "ENST00000490730.1",
"protein_id": "ENSP00000422716.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.240+1726C>T",
"hgvs_p": null,
"transcript": "ENST00000503121.5",
"protein_id": "ENSP00000425550.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.66-1054C>T",
"hgvs_p": null,
"transcript": "ENST00000397428.8",
"protein_id": "ENSP00000380572.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "n.395-1054C>T",
"hgvs_p": null,
"transcript": "ENST00000505054.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.618+259C>T",
"hgvs_p": null,
"transcript": "XM_047438346.1",
"protein_id": "XP_047294302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.688+111C>T",
"hgvs_p": null,
"transcript": "XM_047438348.1",
"protein_id": "XP_047294304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.423+634C>T",
"hgvs_p": null,
"transcript": "XM_047438349.1",
"protein_id": "XP_047294305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.280-1054C>T",
"hgvs_p": null,
"transcript": "XM_047438351.1",
"protein_id": "XP_047294307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"dbsnp": "rs79311416",
"frequency_reference_population": 0.0013329113,
"hom_count_reference_population": 27,
"allele_count_reference_population": 2148,
"gnomad_exomes_af": 0.00076336,
"gnomad_genomes_af": 0.00679494,
"gnomad_exomes_ac": 1114,
"gnomad_genomes_ac": 1034,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003393232822418213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.904,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000324444.9",
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}