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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: 6-154827196-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154827196&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 154827196,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286188.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2096C>G",
"hgvs_p": "p.Pro699Arg",
"transcript": "NM_014892.5",
"protein_id": "NP_055707.3",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2096,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367178.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014892.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2096C>G",
"hgvs_p": "p.Pro699Arg",
"transcript": "ENST00000367178.8",
"protein_id": "ENSP00000356146.3",
"transcript_support_level": 2,
"aa_start": 699,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2096,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014892.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367178.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2330C>G",
"hgvs_p": "p.Pro777Arg",
"transcript": "NM_001286188.1",
"protein_id": "NP_001273117.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286188.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2330C>G",
"hgvs_p": "p.Pro777Arg",
"transcript": "ENST00000417268.3",
"protein_id": "ENSP00000413098.2",
"transcript_support_level": 2,
"aa_start": 777,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417268.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2294C>G",
"hgvs_p": "p.Pro765Arg",
"transcript": "NM_001286189.1",
"protein_id": "NP_001273118.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2294,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286189.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2294C>G",
"hgvs_p": "p.Pro765Arg",
"transcript": "ENST00000367186.7",
"protein_id": "ENSP00000356154.4",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2294,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367186.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2231C>G",
"hgvs_p": "p.Pro744Arg",
"transcript": "NM_001286194.1",
"protein_id": "NP_001273123.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1316,
"cds_start": 2231,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286194.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2096C>G",
"hgvs_p": "p.Pro699Arg",
"transcript": "NM_001286199.2",
"protein_id": "NP_001273128.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2096,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286199.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2096C>G",
"hgvs_p": "p.Pro699Arg",
"transcript": "ENST00000899496.1",
"protein_id": "ENSP00000569555.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2096,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899496.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2030C>G",
"hgvs_p": "p.Pro677Arg",
"transcript": "ENST00000913266.1",
"protein_id": "ENSP00000583325.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2030,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913266.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Pro676Arg",
"transcript": "ENST00000913267.1",
"protein_id": "ENSP00000583326.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2027,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913267.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1805C>G",
"hgvs_p": "p.Pro602Arg",
"transcript": "ENST00000913268.1",
"protein_id": "ENSP00000583327.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1805,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913268.1"
}
],
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"dbsnp": "rs778637082",
"frequency_reference_population": 0.000062940744,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000681443,
"gnomad_genomes_af": 0.0000131679,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5685667395591736,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.5606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.768,
"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": 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_001286188.1",
"gene_symbol": "SCAF8",
"hgnc_id": 20959,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2330C>G",
"hgvs_p": "p.Pro777Arg"
}
],
"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
}