← Back to variant description
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: 11-64895176-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64895176&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64895176,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015104.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5614G>T",
"hgvs_p": "p.Val1872Leu",
"transcript": "NM_015104.3",
"protein_id": "NP_055919.2",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377264.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015104.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5614G>T",
"hgvs_p": "p.Val1872Leu",
"transcript": "ENST00000377264.8",
"protein_id": "ENSP00000366475.3",
"transcript_support_level": 1,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015104.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377264.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5596G>T",
"hgvs_p": "p.Val1866Leu",
"transcript": "NM_001367972.1",
"protein_id": "NP_001354901.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5596,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367972.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5596G>T",
"hgvs_p": "p.Val1866Leu",
"transcript": "ENST00000879824.1",
"protein_id": "ENSP00000549883.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5596,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879824.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5590G>T",
"hgvs_p": "p.Val1864Leu",
"transcript": "NM_001367971.1",
"protein_id": "NP_001354900.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1930,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367971.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5590G>T",
"hgvs_p": "p.Val1864Leu",
"transcript": "ENST00000879823.1",
"protein_id": "ENSP00000549882.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1930,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879823.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5548G>T",
"hgvs_p": "p.Val1850Leu",
"transcript": "ENST00000934233.1",
"protein_id": "ENSP00000604292.1",
"transcript_support_level": null,
"aa_start": 1850,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5548,
"cds_end": null,
"cds_length": 5751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934233.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5473G>T",
"hgvs_p": "p.Val1825Leu",
"transcript": "ENST00000879826.1",
"protein_id": "ENSP00000549885.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1891,
"cds_start": 5473,
"cds_end": null,
"cds_length": 5676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879826.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5449G>T",
"hgvs_p": "p.Val1817Leu",
"transcript": "ENST00000934232.1",
"protein_id": "ENSP00000604291.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1883,
"cds_start": 5449,
"cds_end": null,
"cds_length": 5652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934232.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Val1813Leu",
"transcript": "ENST00000879825.1",
"protein_id": "ENSP00000549884.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5437,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879825.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5023G>T",
"hgvs_p": "p.Val1675Leu",
"transcript": "ENST00000418259.5",
"protein_id": "ENSP00000413716.1",
"transcript_support_level": 5,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1741,
"cds_start": 5023,
"cds_end": null,
"cds_length": 5226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418259.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.5620G>T",
"hgvs_p": "p.Val1874Leu",
"transcript": "XM_011544863.3",
"protein_id": "XP_011543165.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5620,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544863.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308350",
"gene_hgnc_id": null,
"hgvs_c": "n.236+1314C>A",
"hgvs_p": null,
"transcript": "ENST00000833458.1",
"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": "ENST00000833458.1"
},
{
"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": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.*256G>T",
"hgvs_p": null,
"transcript": "XM_011544866.3",
"protein_id": "XP_011543168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1762,
"cds_start": null,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544866.3"
}
],
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"dbsnp": "rs773533718",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43873152136802673,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.8209,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.535,
"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_015104.3",
"gene_symbol": "ATG2A",
"hgnc_id": 29028,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5614G>T",
"hgvs_p": "p.Val1872Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000833458.1",
"gene_symbol": "ENSG00000308350",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.236+1314C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}