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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: 14-99894754-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99894754&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99894754,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000262233.11",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "NM_004434.3",
"protein_id": "NP_004425.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 815,
"cds_start": 673,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": "ENST00000262233.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "ENST00000262233.11",
"protein_id": "ENSP00000262233.7",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 815,
"cds_start": 673,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": "NM_004434.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "ENST00000554479.5",
"protein_id": "ENSP00000451346.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 378,
"cds_start": 634,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Trp250Arg",
"transcript": "ENST00000649352.1",
"protein_id": "ENSP00000498100.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 840,
"cds_start": 748,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Trp244Arg",
"transcript": "NM_001008707.2",
"protein_id": "NP_001008707.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 834,
"cds_start": 730,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Trp244Arg",
"transcript": "ENST00000334192.8",
"protein_id": "ENSP00000334314.4",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 834,
"cds_start": 730,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Trp231Arg",
"transcript": "NM_001440375.1",
"protein_id": "NP_001427304.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 821,
"cds_start": 691,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.637T>C",
"hgvs_p": "p.Trp213Arg",
"transcript": "ENST00000327921.13",
"protein_id": "ENSP00000327384.9",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 803,
"cds_start": 637,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "NM_001375411.1",
"protein_id": "NP_001362340.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 802,
"cds_start": 634,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Trp231Arg",
"transcript": "NM_001440376.1",
"protein_id": "NP_001427305.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 777,
"cds_start": 691,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg",
"transcript": "NM_001375412.1",
"protein_id": "NP_001362341.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 771,
"cds_start": 673,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "NM_001440377.1",
"protein_id": "NP_001427306.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 758,
"cds_start": 634,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Trp194Arg",
"transcript": "ENST00000556714.5",
"protein_id": "ENSP00000452089.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 284,
"cds_start": 580,
"cds_end": null,
"cds_length": 855,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.211T>C",
"hgvs_p": "p.Trp71Arg",
"transcript": "ENST00000697131.1",
"protein_id": "ENSP00000513128.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 70,
"cds_start": 211,
"cds_end": null,
"cds_length": 215,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Trp250Arg",
"transcript": "XM_005267399.4",
"protein_id": "XP_005267456.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 840,
"cds_start": 748,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Trp244Arg",
"transcript": "XM_005267397.2",
"protein_id": "XP_005267454.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 834,
"cds_start": 730,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Trp231Arg",
"transcript": "XM_005267398.3",
"protein_id": "XP_005267455.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 821,
"cds_start": 691,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Trp250Arg",
"transcript": "XM_011536542.4",
"protein_id": "XP_011534844.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 796,
"cds_start": 748,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Trp37Arg",
"transcript": "XM_024449507.1",
"protein_id": "XP_024305275.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 627,
"cds_start": 109,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 4125,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "n.302T>C",
"hgvs_p": null,
"transcript": "ENST00000555277.1",
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"dbsnp": "rs886037937",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9481723308563232,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.88,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262233.11",
"gene_symbol": "EML1",
"hgnc_id": 3330,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Trp225Arg"
}
],
"clinvar_disease": "Band heterotopia of brain",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Band heterotopia of brain",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}