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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: X-69616361-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=69616361&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 69616361,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001399.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001399.5",
"protein_id": "NP_001390.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 391,
"cds_start": 53,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "ENST00000374552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000374552.9",
"protein_id": "ENSP00000363680.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 391,
"cds_start": 53,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "NM_001399.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000374553.6",
"protein_id": "ENSP00000363681.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 389,
"cds_start": 53,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000524573.5",
"protein_id": "ENSP00000432585.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 386,
"cds_start": 53,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000527388.5",
"protein_id": "ENSP00000434861.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 148,
"cds_start": 53,
"cds_end": null,
"cds_length": 447,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000525810.5",
"protein_id": "ENSP00000434195.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 135,
"cds_start": 53,
"cds_end": null,
"cds_length": 408,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 843,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "n.295G>C",
"hgvs_p": null,
"transcript": "ENST00000374548.5",
"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": 1116,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "n.295G>C",
"hgvs_p": null,
"transcript": "ENST00000502251.5",
"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": 1167,
"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": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "n.295G>C",
"hgvs_p": null,
"transcript": "ENST00000533317.5",
"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": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001005609.2",
"protein_id": "NP_001005609.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 389,
"cds_start": 53,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001440761.1",
"protein_id": "NP_001427690.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 388,
"cds_start": 53,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001005612.3",
"protein_id": "NP_001005612.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 386,
"cds_start": 53,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001440762.1",
"protein_id": "NP_001427691.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 377,
"cds_start": 53,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001005613.4",
"protein_id": "NP_001005613.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 148,
"cds_start": 53,
"cds_end": null,
"cds_length": 447,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "ENST00000338901.4",
"protein_id": "ENSP00000340611.4",
"transcript_support_level": 6,
"aa_start": 18,
"aa_end": null,
"aa_length": 147,
"cds_start": 53,
"cds_end": null,
"cds_length": 444,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "NM_001005610.4",
"protein_id": "NP_001005610.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 135,
"cds_start": 53,
"cds_end": null,
"cds_length": 408,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "XM_011530885.3",
"protein_id": "XP_011529187.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 345,
"cds_start": 53,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro",
"transcript": "XM_017029337.2",
"protein_id": "XP_016884826.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 133,
"cds_start": 53,
"cds_end": null,
"cds_length": 402,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 20167,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "n.249G>C",
"hgvs_p": null,
"transcript": "XR_001755660.2",
"protein_id": null,
"transcript_support_level": null,
"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": 19777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"dbsnp": "rs765218801",
"frequency_reference_population": 0.0000018298296,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000182983,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3406079411506653,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.289,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001399.5",
"gene_symbol": "EDA",
"hgnc_id": 3157,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.53G>C",
"hgvs_p": "p.Arg18Pro"
}
],
"clinvar_disease": "Hypohidrotic X-linked ectodermal dysplasia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hypohidrotic X-linked ectodermal dysplasia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}