← 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: X-118975393-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=118975393&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LONRF3",
"hgnc_id": 21152,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001031855.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07969257235527039,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2280,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001031855.3",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371628.8",
"protein_coding": true,
"protein_id": "NP_001027026.1",
"strand": true,
"transcript": "NM_001031855.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2280,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000371628.8",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031855.3",
"protein_coding": true,
"protein_id": "ENSP00000360690.3",
"strand": true,
"transcript": "ENST00000371628.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 718,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2157,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000304778.11",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307732.7",
"strand": true,
"transcript": "ENST00000304778.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 524,
"aa_ref": "A",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6811,
"cdna_start": 32,
"cds_end": null,
"cds_length": 1575,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000439603.6",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414519.1",
"strand": true,
"transcript": "ENST00000439603.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 727,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 758,
"cds_end": null,
"cds_length": 2184,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961937.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631996.1",
"strand": true,
"transcript": "ENST00000961937.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 718,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2157,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_024778.5",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079054.3",
"strand": true,
"transcript": "NM_024778.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 811,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2436,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005262476.3",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262533.1",
"strand": true,
"transcript": "XM_005262476.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2061,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047442517.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298473.1",
"strand": true,
"transcript": "XM_047442517.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 662,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1989,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011531398.3",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529700.1",
"strand": true,
"transcript": "XM_011531398.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1710,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017029845.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885334.1",
"strand": true,
"transcript": "XM_017029845.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1605,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047442518.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298474.1",
"strand": true,
"transcript": "XM_047442518.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 441,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1326,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047442519.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298475.1",
"strand": true,
"transcript": "XM_047442519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000481285.5",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "n.613G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435426.1",
"strand": true,
"transcript": "ENST00000481285.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_110311.1",
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"hgvs_c": "n.780G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_110311.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751174364",
"effect": "missense_variant",
"frequency_reference_population": 0.0000049908167,
"gene_hgnc_id": 21152,
"gene_symbol": "LONRF3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.0000036723,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000177037,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.754,
"pos": 118975393,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.127,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001031855.3"
}
]
}