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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: 11-64910626-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64910626&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64910626,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377264.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "NM_015104.3",
"protein_id": "NP_055919.2",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1938,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": "ENST00000377264.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "ENST00000377264.8",
"protein_id": "ENSP00000366475.3",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 1938,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": "NM_015104.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "NM_001367972.1",
"protein_id": "NP_001354901.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1932,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "NM_001367971.1",
"protein_id": "NP_001354900.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1930,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5793,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1100G>T",
"hgvs_p": "p.Arg367Leu",
"transcript": "ENST00000418259.5",
"protein_id": "ENSP00000413716.1",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 1741,
"cds_start": 1100,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "XM_011544863.3",
"protein_id": "XP_011543165.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1940,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "XM_011544866.3",
"protein_id": "XP_011543168.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1762,
"cds_start": 1697,
"cds_end": null,
"cds_length": 5289,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "XM_011544867.4",
"protein_id": "XP_011543169.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1346,
"cds_start": 1697,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "n.1771G>T",
"hgvs_p": null,
"transcript": "XR_007062462.1",
"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": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "n.1771G>T",
"hgvs_p": null,
"transcript": "XR_949847.3",
"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": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"hgvs_c": "n.1771G>T",
"hgvs_p": null,
"transcript": "XR_949848.3",
"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": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATG2A",
"gene_hgnc_id": 29028,
"dbsnp": "rs77833427",
"frequency_reference_population": 0.000006572116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25054192543029785,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1763,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377264.8",
"gene_symbol": "ATG2A",
"hgnc_id": 29028,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}