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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: 5-146000317-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146000317&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146000317,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152550.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "NM_152550.4",
"protein_id": "NP_689763.4",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359120.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152550.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000359120.9",
"protein_id": "ENSP00000352028.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152550.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359120.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000511217.1",
"protein_id": "ENSP00000424497.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511217.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859825.1",
"protein_id": "ENSP00000529884.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859825.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859827.1",
"protein_id": "ENSP00000529886.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859827.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859831.1",
"protein_id": "ENSP00000529890.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859831.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000930066.1",
"protein_id": "ENSP00000600125.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930066.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859824.1",
"protein_id": "ENSP00000529883.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859824.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859826.1",
"protein_id": "ENSP00000529885.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859826.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859832.1",
"protein_id": "ENSP00000529891.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859832.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859833.1",
"protein_id": "ENSP00000529892.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 719,
"cds_start": 638,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859833.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859828.1",
"protein_id": "ENSP00000529887.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 672,
"cds_start": 638,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859828.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859829.1",
"protein_id": "ENSP00000529888.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 672,
"cds_start": 638,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859829.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000859830.1",
"protein_id": "ENSP00000529889.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 624,
"cds_start": 638,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859830.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "XM_011537567.3",
"protein_id": "XP_011535869.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537567.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "XM_011537568.3",
"protein_id": "XP_011535870.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 735,
"cds_start": 638,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537568.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "XM_006714757.2",
"protein_id": "XP_006714820.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714757.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "XM_017009136.2",
"protein_id": "XP_016864625.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 729,
"cds_start": 638,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009136.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107986458",
"gene_hgnc_id": null,
"hgvs_c": "n.378-3893G>A",
"hgvs_p": null,
"transcript": "XR_001742913.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001742913.2"
}
],
"gene_symbol": "SH3RF2",
"gene_hgnc_id": 26299,
"dbsnp": "rs529406915",
"frequency_reference_population": 0.0000037195416,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273823,
"gnomad_genomes_af": 0.0000131316,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5449318885803223,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.2383,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.931,
"phylop100way_prediction": "Benign",
"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": 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_152550.4",
"gene_symbol": "SH3RF2",
"hgnc_id": 26299,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001742913.2",
"gene_symbol": "LOC107986458",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.378-3893G>A",
"hgvs_p": null
}
],
"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
}