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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-17727368-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=17727368&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 17727368,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000676302.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.3262C>A",
"hgvs_p": "p.His1088Asn",
"transcript": "NM_001291867.2",
"protein_id": "NP_001278796.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3262,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 9044,
"mane_select": "ENST00000676302.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.3262C>A",
"hgvs_p": "p.His1088Asn",
"transcript": "ENST00000676302.1",
"protein_id": "ENSP00000502262.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3262,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 9044,
"mane_select": "NM_001291867.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.3199C>A",
"hgvs_p": "p.His1067Asn",
"transcript": "ENST00000380060.7",
"protein_id": "ENSP00000369400.3",
"transcript_support_level": 1,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1630,
"cds_start": 3199,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 8761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2731C>A",
"hgvs_p": "p.His911Asn",
"transcript": "ENST00000398097.7",
"protein_id": "ENSP00000381170.3",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2731,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3005,
"cdna_end": null,
"cdna_length": 8213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2650C>A",
"hgvs_p": "p.His884Asn",
"transcript": "ENST00000617601.4",
"protein_id": "ENSP00000478433.1",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.3199C>A",
"hgvs_p": "p.His1067Asn",
"transcript": "NM_198270.4",
"protein_id": "NP_938011.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1630,
"cds_start": 3199,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 8981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2923C>A",
"hgvs_p": "p.His975Asn",
"transcript": "NM_001440780.1",
"protein_id": "NP_001427709.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1538,
"cds_start": 2923,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 8202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2731C>A",
"hgvs_p": "p.His911Asn",
"transcript": "NM_001136024.4",
"protein_id": "NP_001129496.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2731,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2668C>A",
"hgvs_p": "p.His890Asn",
"transcript": "NM_001291868.2",
"protein_id": "NP_001278797.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2668,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "c.2314C>A",
"hgvs_p": "p.His772Asn",
"transcript": "XM_011545528.3",
"protein_id": "XP_011543830.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1335,
"cds_start": 2314,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 7701,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "n.3657C>A",
"hgvs_p": null,
"transcript": "ENST00000615422.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 8865,
"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": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "n.2219C>A",
"hgvs_p": null,
"transcript": "ENST00000690608.1",
"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": 3877,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309710",
"gene_hgnc_id": null,
"hgvs_c": "n.299+6233G>T",
"hgvs_p": null,
"transcript": "ENST00000843253.1",
"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": 602,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309710",
"gene_hgnc_id": null,
"hgvs_c": "n.259+6233G>T",
"hgvs_p": null,
"transcript": "ENST00000843254.1",
"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": 640,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309710",
"gene_hgnc_id": null,
"hgvs_c": "n.259+6233G>T",
"hgvs_p": null,
"transcript": "ENST00000843255.1",
"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": 352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"dbsnp": "rs924426347",
"frequency_reference_population": 0.0000016558813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 9.12546e-7,
"gnomad_genomes_af": 0.00000893009,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42703622579574585,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.5027,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000676302.1",
"gene_symbol": "NHS",
"hgnc_id": 7820,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.3262C>A",
"hgvs_p": "p.His1088Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000843253.1",
"gene_symbol": "ENSG00000309710",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.299+6233G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}