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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: 9-109192339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=109192339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 109192339,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019114.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "NM_019114.5",
"protein_id": "NP_061987.3",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374566.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019114.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "ENST00000374566.8",
"protein_id": "ENSP00000363694.3",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019114.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374566.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "ENST00000952218.1",
"protein_id": "ENSP00000622277.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 938,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952218.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "ENST00000952215.1",
"protein_id": "ENSP00000622274.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 903,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952215.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2225G>A",
"hgvs_p": "p.Gly742Glu",
"transcript": "ENST00000952219.1",
"protein_id": "ENSP00000622278.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 895,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952219.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2315G>A",
"hgvs_p": "p.Gly772Glu",
"transcript": "ENST00000952214.1",
"protein_id": "ENSP00000622273.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 886,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952214.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "NM_001385623.1",
"protein_id": "NP_001372552.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 864,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385623.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "ENST00000933162.1",
"protein_id": "ENSP00000603221.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 864,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933162.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "ENST00000952213.1",
"protein_id": "ENSP00000622272.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 861,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952213.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "ENST00000952217.1",
"protein_id": "ENSP00000622276.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 841,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952217.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "ENST00000952216.1",
"protein_id": "ENSP00000622275.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 838,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952216.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "XM_011518790.2",
"protein_id": "XP_011517092.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 941,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518790.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "XM_011518791.3",
"protein_id": "XP_011517093.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 938,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518791.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "XM_017014813.2",
"protein_id": "XP_016870302.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 903,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014813.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "XM_017014814.2",
"protein_id": "XP_016870303.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 861,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014814.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"transcript": "XM_011518794.3",
"protein_id": "XP_011517096.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 841,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518794.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu",
"transcript": "XM_017014815.2",
"protein_id": "XP_016870304.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 838,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014815.2"
},
{
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.2223+1881G>A",
"hgvs_p": null,
"transcript": "ENST00000933163.1",
"protein_id": "ENSP00000603222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": null,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933163.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"hgvs_c": "c.1879-9542G>A",
"hgvs_p": null,
"transcript": "ENST00000952220.1",
"protein_id": "ENSP00000622279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952220.1"
}
],
"gene_symbol": "EPB41L4B",
"gene_hgnc_id": 19818,
"dbsnp": "rs200634407",
"frequency_reference_population": 0.0003982729,
"hom_count_reference_population": 0,
"allele_count_reference_population": 642,
"gnomad_exomes_af": 0.000411702,
"gnomad_genomes_af": 0.000269439,
"gnomad_exomes_ac": 601,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28052473068237305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.124,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.736,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_019114.5",
"gene_symbol": "EPB41L4B",
"hgnc_id": 19818,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Gly747Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}