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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: 8-74010047-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74010047&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74010047,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015364.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys",
"transcript": "NM_015364.5",
"protein_id": "NP_056179.4",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 160,
"cds_start": 249,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284818.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015364.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys",
"transcript": "ENST00000284818.7",
"protein_id": "ENSP00000284818.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 160,
"cds_start": 249,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015364.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284818.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "NM_001195797.2",
"protein_id": "NP_001182726.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 130,
"cds_start": 159,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195797.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "ENST00000518893.1",
"protein_id": "ENSP00000430533.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 130,
"cds_start": 159,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518893.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys",
"transcript": "XM_047421662.1",
"protein_id": "XP_047277618.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 192,
"cds_start": 249,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421662.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys",
"transcript": "XM_017013299.2",
"protein_id": "XP_016868788.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 191,
"cds_start": 249,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013299.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "XM_017013300.2",
"protein_id": "XP_016868789.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 161,
"cds_start": 159,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013300.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys",
"transcript": "XM_011517508.3",
"protein_id": "XP_011515810.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 138,
"cds_start": 249,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517508.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"hgvs_c": "c.202+5162C>A",
"hgvs_p": null,
"transcript": "ENST00000962532.1",
"protein_id": "ENSP00000632591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962532.1"
}
],
"gene_symbol": "LY96",
"gene_hgnc_id": 17156,
"dbsnp": "rs766793944",
"frequency_reference_population": 6.8666037e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8666e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07651647925376892,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.2259,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.187,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015364.5",
"gene_symbol": "LY96",
"hgnc_id": 17156,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.249C>A",
"hgvs_p": "p.Asn83Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}