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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-17726071-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=17726071&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 17726071,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001291867.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1965T>G",
"hgvs_p": "p.Pro655Pro",
"transcript": "NM_001291867.2",
"protein_id": "NP_001278796.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 1651,
"cds_start": 1965,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676302.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291867.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1965T>G",
"hgvs_p": "p.Pro655Pro",
"transcript": "ENST00000676302.1",
"protein_id": "ENSP00000502262.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 1651,
"cds_start": 1965,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001291867.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676302.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1902T>G",
"hgvs_p": "p.Pro634Pro",
"transcript": "ENST00000380060.7",
"protein_id": "ENSP00000369400.3",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 1630,
"cds_start": 1902,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380060.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1434T>G",
"hgvs_p": "p.Pro478Pro",
"transcript": "ENST00000398097.7",
"protein_id": "ENSP00000381170.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1474,
"cds_start": 1434,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398097.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1353T>G",
"hgvs_p": "p.Pro451Pro",
"transcript": "ENST00000617601.4",
"protein_id": "ENSP00000478433.1",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1353,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617601.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1902T>G",
"hgvs_p": "p.Pro634Pro",
"transcript": "NM_198270.4",
"protein_id": "NP_938011.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1630,
"cds_start": 1902,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198270.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1626T>G",
"hgvs_p": "p.Pro542Pro",
"transcript": "NM_001440780.1",
"protein_id": "NP_001427709.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1538,
"cds_start": 1626,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440780.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1434T>G",
"hgvs_p": "p.Pro478Pro",
"transcript": "NM_001136024.4",
"protein_id": "NP_001129496.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1474,
"cds_start": 1434,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136024.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1371T>G",
"hgvs_p": "p.Pro457Pro",
"transcript": "NM_001291868.2",
"protein_id": "NP_001278797.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1453,
"cds_start": 1371,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291868.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1017T>G",
"hgvs_p": "p.Pro339Pro",
"transcript": "XM_011545528.3",
"protein_id": "XP_011543830.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 1335,
"cds_start": 1017,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545528.3"
},
{
"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.2360T>G",
"hgvs_p": null,
"transcript": "ENST00000615422.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000615422.2"
},
{
"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.922T>G",
"hgvs_p": null,
"transcript": "ENST00000690608.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690608.1"
},
{
"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+7530A>C",
"hgvs_p": null,
"transcript": "ENST00000843253.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000843253.1"
},
{
"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.260-5969A>C",
"hgvs_p": null,
"transcript": "ENST00000843254.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000843254.1"
},
{
"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.260-5969A>C",
"hgvs_p": null,
"transcript": "ENST00000843255.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000843255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"hgvs_c": "n.*141T>G",
"hgvs_p": null,
"transcript": "ENST00000690213.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690213.1"
}
],
"gene_symbol": "NHS",
"gene_hgnc_id": 7820,
"dbsnp": "rs151009077",
"frequency_reference_population": 0.000119006494,
"hom_count_reference_population": 45,
"allele_count_reference_population": 144,
"gnomad_exomes_af": 0.000063739,
"gnomad_genomes_af": 0.000661961,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 74,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.612,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001291867.2",
"gene_symbol": "NHS",
"hgnc_id": 7820,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1965T>G",
"hgvs_p": "p.Pro655Pro"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000843253.1",
"gene_symbol": "ENSG00000309710",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.299+7530A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Nance-Horan syndrome,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|Nance-Horan syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}