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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: 7-5308159-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5308159&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5308159,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001080495.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Glu2952Lys",
"transcript": "NM_001080495.3",
"protein_id": "NP_001073964.2",
"transcript_support_level": null,
"aa_start": 2952,
"aa_end": null,
"aa_length": 2968,
"cds_start": 8854,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430969.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080495.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Glu2952Lys",
"transcript": "ENST00000430969.6",
"protein_id": "ENSP00000395538.1",
"transcript_support_level": 5,
"aa_start": 2952,
"aa_end": null,
"aa_length": 2968,
"cds_start": 8854,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080495.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430969.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Glu2952Lys",
"transcript": "ENST00000399537.8",
"protein_id": "ENSP00000382452.4",
"transcript_support_level": 5,
"aa_start": 2952,
"aa_end": null,
"aa_length": 2968,
"cds_start": 8854,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399537.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8887G>A",
"hgvs_p": "p.Glu2963Lys",
"transcript": "XM_017012728.3",
"protein_id": "XP_016868217.1",
"transcript_support_level": null,
"aa_start": 2963,
"aa_end": null,
"aa_length": 2979,
"cds_start": 8887,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012728.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8887G>A",
"hgvs_p": "p.Glu2963Lys",
"transcript": "XM_047420976.1",
"protein_id": "XP_047276932.1",
"transcript_support_level": null,
"aa_start": 2963,
"aa_end": null,
"aa_length": 2979,
"cds_start": 8887,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420976.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8887G>A",
"hgvs_p": "p.Glu2963Lys",
"transcript": "XM_047420977.1",
"protein_id": "XP_047276933.1",
"transcript_support_level": null,
"aa_start": 2963,
"aa_end": null,
"aa_length": 2979,
"cds_start": 8887,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420977.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8887G>A",
"hgvs_p": "p.Glu2963Lys",
"transcript": "XM_047420978.1",
"protein_id": "XP_047276934.1",
"transcript_support_level": null,
"aa_start": 2963,
"aa_end": null,
"aa_length": 2979,
"cds_start": 8887,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420978.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8884G>A",
"hgvs_p": "p.Glu2962Lys",
"transcript": "XM_017012730.2",
"protein_id": "XP_016868219.1",
"transcript_support_level": null,
"aa_start": 2962,
"aa_end": null,
"aa_length": 2978,
"cds_start": 8884,
"cds_end": null,
"cds_length": 8937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012730.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Glu2952Lys",
"transcript": "XM_047420979.1",
"protein_id": "XP_047276935.1",
"transcript_support_level": null,
"aa_start": 2952,
"aa_end": null,
"aa_length": 2968,
"cds_start": 8854,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420979.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8851G>A",
"hgvs_p": "p.Glu2951Lys",
"transcript": "XM_047420980.1",
"protein_id": "XP_047276936.1",
"transcript_support_level": null,
"aa_start": 2951,
"aa_end": null,
"aa_length": 2967,
"cds_start": 8851,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420980.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8758G>A",
"hgvs_p": "p.Glu2920Lys",
"transcript": "XM_017012731.2",
"protein_id": "XP_016868220.1",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 2936,
"cds_start": 8758,
"cds_end": null,
"cds_length": 8811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012731.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8755G>A",
"hgvs_p": "p.Glu2919Lys",
"transcript": "XM_017012732.2",
"protein_id": "XP_016868221.1",
"transcript_support_level": null,
"aa_start": 2919,
"aa_end": null,
"aa_length": 2935,
"cds_start": 8755,
"cds_end": null,
"cds_length": 8808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012732.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8737G>A",
"hgvs_p": "p.Glu2913Lys",
"transcript": "XM_017012734.3",
"protein_id": "XP_016868223.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 2929,
"cds_start": 8737,
"cds_end": null,
"cds_length": 8790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012734.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8725G>A",
"hgvs_p": "p.Glu2909Lys",
"transcript": "XM_047420981.1",
"protein_id": "XP_047276937.1",
"transcript_support_level": null,
"aa_start": 2909,
"aa_end": null,
"aa_length": 2925,
"cds_start": 8725,
"cds_end": null,
"cds_length": 8778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420981.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8665G>A",
"hgvs_p": "p.Glu2889Lys",
"transcript": "XM_017012736.2",
"protein_id": "XP_016868225.1",
"transcript_support_level": null,
"aa_start": 2889,
"aa_end": null,
"aa_length": 2905,
"cds_start": 8665,
"cds_end": null,
"cds_length": 8718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012736.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8665G>A",
"hgvs_p": "p.Glu2889Lys",
"transcript": "XM_017012737.3",
"protein_id": "XP_016868226.1",
"transcript_support_level": null,
"aa_start": 2889,
"aa_end": null,
"aa_length": 2905,
"cds_start": 8665,
"cds_end": null,
"cds_length": 8718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012737.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"hgvs_c": "c.8665G>A",
"hgvs_p": "p.Glu2889Lys",
"transcript": "XM_047420983.1",
"protein_id": "XP_047276939.1",
"transcript_support_level": null,
"aa_start": 2889,
"aa_end": null,
"aa_length": 2905,
"cds_start": 8665,
"cds_end": null,
"cds_length": 8718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420983.1"
}
],
"gene_symbol": "TNRC18",
"gene_hgnc_id": 11962,
"dbsnp": "rs1270292355",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4158468246459961,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9496,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.345,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001080495.3",
"gene_symbol": "TNRC18",
"hgnc_id": 11962,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Glu2952Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}