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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: 8-94492748-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94492748&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94492748,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015496.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.4712G>T",
"hgvs_p": "p.Arg1571Leu",
"transcript": "NM_015496.5",
"protein_id": "NP_056311.2",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1812,
"cds_start": 4712,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297591.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015496.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.4712G>T",
"hgvs_p": "p.Arg1571Leu",
"transcript": "ENST00000297591.10",
"protein_id": "ENSP00000297591.5",
"transcript_support_level": 1,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1812,
"cds_start": 4712,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015496.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297591.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.5559G>T",
"hgvs_p": null,
"transcript": "ENST00000521080.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000521080.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.*445G>T",
"hgvs_p": null,
"transcript": "ENST00000522263.5",
"protein_id": "ENSP00000429909.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000522263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.*445G>T",
"hgvs_p": null,
"transcript": "ENST00000522263.5",
"protein_id": "ENSP00000429909.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000522263.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.4853G>T",
"hgvs_p": "p.Arg1618Leu",
"transcript": "ENST00000961582.1",
"protein_id": "ENSP00000631641.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1859,
"cds_start": 4853,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961582.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.4706G>T",
"hgvs_p": "p.Arg1569Leu",
"transcript": "ENST00000883557.1",
"protein_id": "ENSP00000553616.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4706,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883557.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.4589G>T",
"hgvs_p": "p.Arg1530Leu",
"transcript": "ENST00000961583.1",
"protein_id": "ENSP00000631642.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4589,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961583.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.3584G>T",
"hgvs_p": "p.Arg1195Leu",
"transcript": "ENST00000961584.1",
"protein_id": "ENSP00000631643.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3584,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961584.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.794G>T",
"hgvs_p": "p.Arg265Leu",
"transcript": "ENST00000916406.1",
"protein_id": "ENSP00000586465.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 506,
"cds_start": 794,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916406.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_047421677.1",
"protein_id": "XP_047277633.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421677.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_047421678.1",
"protein_id": "XP_047277634.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1477,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000517624.1",
"protein_id": "ENSP00000430857.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000517624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.*67G>T",
"hgvs_p": null,
"transcript": "ENST00000523263.1",
"protein_id": "ENSP00000428784.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"hgvs_c": "n.*67G>T",
"hgvs_p": null,
"transcript": "ENST00000523263.1",
"protein_id": "ENSP00000428784.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523263.1"
}
],
"gene_symbol": "VIRMA",
"gene_hgnc_id": 24500,
"dbsnp": "rs751267865",
"frequency_reference_population": 6.8416955e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8417e-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": 0.6146383285522461,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.4397,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.698,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"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_015496.5",
"gene_symbol": "VIRMA",
"hgnc_id": 24500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4712G>T",
"hgvs_p": "p.Arg1571Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}