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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: 7-150572594-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150572594&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150572594,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363532.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "NM_018326.3",
"protein_id": "NP_060796.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018326.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "ENST00000255945.4",
"protein_id": "ENSP00000255945.2",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018326.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255945.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Ile189Thr",
"transcript": "NM_001363532.2",
"protein_id": "NP_001350461.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 343,
"cds_start": 566,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363532.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Ile189Thr",
"transcript": "ENST00000461940.5",
"protein_id": "ENSP00000419545.1",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 343,
"cds_start": 566,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461940.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "ENST00000851189.1",
"protein_id": "ENSP00000521248.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851189.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "ENST00000851190.1",
"protein_id": "ENSP00000521249.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851190.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "ENST00000943245.1",
"protein_id": "ENSP00000613304.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943245.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.524T>C",
"hgvs_p": "p.Ile175Thr",
"transcript": "ENST00000943246.1",
"protein_id": "ENSP00000613305.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 524,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "n.514T>C",
"hgvs_p": null,
"transcript": "ENST00000494750.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000494750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "c.*113T>C",
"hgvs_p": null,
"transcript": "ENST00000479232.1",
"protein_id": "ENSP00000418615.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479232.1"
},
{
"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": "GIMAP4",
"gene_hgnc_id": 21872,
"hgvs_c": "n.*61T>C",
"hgvs_p": null,
"transcript": "ENST00000478135.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000478135.1"
}
],
"gene_symbol": "GIMAP4",
"gene_hgnc_id": 21872,
"dbsnp": "rs917802575",
"frequency_reference_population": 0.0000018586854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5904639363288879,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.5142,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.123,
"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": 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": "NM_001363532.2",
"gene_symbol": "GIMAP4",
"hgnc_id": 21872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Ile189Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}