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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: 6-154808792-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154808792&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 154808792,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286188.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"transcript": "NM_014892.5",
"protein_id": "NP_055707.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1220,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "ENST00000367178.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014892.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"transcript": "ENST00000367178.8",
"protein_id": "ENSP00000356146.3",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1220,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "NM_014892.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367178.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"transcript": "NM_001286188.1",
"protein_id": "NP_001273117.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1349,
"cds_start": 1454,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286188.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"transcript": "ENST00000417268.3",
"protein_id": "ENSP00000413098.2",
"transcript_support_level": 2,
"aa_start": 485,
"aa_end": null,
"aa_length": 1349,
"cds_start": 1454,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417268.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1418G>C",
"hgvs_p": "p.Arg473Pro",
"transcript": "NM_001286189.1",
"protein_id": "NP_001273118.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1418,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286189.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1418G>C",
"hgvs_p": "p.Arg473Pro",
"transcript": "ENST00000367186.7",
"protein_id": "ENSP00000356154.4",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1418,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367186.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1355G>C",
"hgvs_p": "p.Arg452Pro",
"transcript": "NM_001286194.1",
"protein_id": "NP_001273123.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1355,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286194.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"transcript": "NM_001286199.2",
"protein_id": "NP_001273128.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1220,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286199.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"transcript": "ENST00000899496.1",
"protein_id": "ENSP00000569555.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1220,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899496.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Arg385Pro",
"transcript": "ENST00000913266.1",
"protein_id": "ENSP00000583325.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1154,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913266.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "ENST00000913267.1",
"protein_id": "ENSP00000583326.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913267.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Arg310Pro",
"transcript": "ENST00000913268.1",
"protein_id": "ENSP00000583327.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1174,
"cds_start": 929,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913268.1"
}
],
"gene_symbol": "SCAF8",
"gene_hgnc_id": 20959,
"dbsnp": "rs116710927",
"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": 0.37278011441230774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.8293,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.293,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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_001286188.1",
"gene_symbol": "SCAF8",
"hgnc_id": 20959,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}