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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: 6-165301975-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=165301975&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 165301975,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144980.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "NM_144980.4",
"protein_id": "NP_659417.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 469,
"cds_start": 347,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": "ENST00000230301.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144980.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "ENST00000230301.9",
"protein_id": "ENSP00000230301.8",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 469,
"cds_start": 347,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": "NM_144980.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230301.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "XM_011535509.2",
"protein_id": "XP_011533811.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 536,
"cds_start": 452,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535509.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "XM_011535510.2",
"protein_id": "XP_011533812.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 516,
"cds_start": 452,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535510.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "XM_011535511.4",
"protein_id": "XP_011533813.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 504,
"cds_start": 452,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535511.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "XM_005266838.3",
"protein_id": "XP_005266895.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 501,
"cds_start": 347,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266838.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "XM_017010323.1",
"protein_id": "XP_016865812.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 483,
"cds_start": 452,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010323.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "XM_047418256.1",
"protein_id": "XP_047274212.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 448,
"cds_start": 347,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418256.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "c.35C>G",
"hgvs_p": "p.Thr12Arg",
"transcript": "XM_011535512.3",
"protein_id": "XP_011533814.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 397,
"cds_start": 35,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535512.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"hgvs_c": "n.570C>G",
"hgvs_p": null,
"transcript": "XR_942320.4",
"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": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_942320.4"
}
],
"gene_symbol": "C6orf118",
"gene_hgnc_id": 21233,
"dbsnp": "rs150870882",
"frequency_reference_population": 0.0000013685058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136851,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.800506591796875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.4685,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.689,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144980.4",
"gene_symbol": "C6orf118",
"hgnc_id": 21233,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}