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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: 2-101397553-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101397553&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101397553,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145664.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Val473Leu",
"transcript": "NM_001145664.2",
"protein_id": "NP_001139136.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 473,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428343.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145664.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Val473Leu",
"transcript": "ENST00000428343.6",
"protein_id": "ENSP00000401536.1",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 473,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145664.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428343.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1756G>T",
"hgvs_p": "p.Val586Leu",
"transcript": "ENST00000646893.2",
"protein_id": "ENSP00000494249.2",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 586,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646893.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1630G>T",
"hgvs_p": "p.Val544Leu",
"transcript": "ENST00000646446.1",
"protein_id": "ENSP00000494216.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 544,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646446.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.928G>T",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000939864.1",
"protein_id": "ENSP00000609923.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 310,
"cds_start": 928,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939864.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.904G>T",
"hgvs_p": "p.Val302Leu",
"transcript": "NM_001367508.1",
"protein_id": "NP_001354437.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 302,
"cds_start": 904,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367508.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.904G>T",
"hgvs_p": "p.Val302Leu",
"transcript": "NM_001367509.1",
"protein_id": "NP_001354438.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 302,
"cds_start": 904,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367509.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.904G>T",
"hgvs_p": "p.Val302Leu",
"transcript": "NM_001367510.1",
"protein_id": "NP_001354439.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 302,
"cds_start": 904,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367510.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1756G>T",
"hgvs_p": "p.Val586Leu",
"transcript": "XM_017004851.2",
"protein_id": "XP_016860340.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 586,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004851.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1645G>T",
"hgvs_p": "p.Val549Leu",
"transcript": "XM_011511771.3",
"protein_id": "XP_011510073.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 549,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511771.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1630G>T",
"hgvs_p": "p.Val544Leu",
"transcript": "XM_047445739.1",
"protein_id": "XP_047301695.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 544,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445739.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1543G>T",
"hgvs_p": "p.Val515Leu",
"transcript": "XM_017004852.2",
"protein_id": "XP_016860341.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 515,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004852.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1327G>T",
"hgvs_p": "p.Val443Leu",
"transcript": "XM_011511773.2",
"protein_id": "XP_011510075.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 443,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511773.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1129G>T",
"hgvs_p": "p.Val377Leu",
"transcript": "XM_011511777.3",
"protein_id": "XP_011510079.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 377,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511777.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1129G>T",
"hgvs_p": "p.Val377Leu",
"transcript": "XM_011511778.2",
"protein_id": "XP_011510080.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 377,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511778.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.1129G>T",
"hgvs_p": "p.Val377Leu",
"transcript": "XM_047445741.1",
"protein_id": "XP_047301697.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 377,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "c.*146G>T",
"hgvs_p": null,
"transcript": "XM_047445740.1",
"protein_id": "XP_047301696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "n.*1133G>T",
"hgvs_p": null,
"transcript": "ENST00000481179.5",
"protein_id": "ENSP00000422968.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000481179.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"hgvs_c": "n.*1133G>T",
"hgvs_p": null,
"transcript": "ENST00000481179.5",
"protein_id": "ENSP00000422968.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000481179.5"
}
],
"gene_symbol": "RFX8",
"gene_hgnc_id": 37253,
"dbsnp": "rs1220406848",
"frequency_reference_population": 7.218403e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.2184e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.050341665744781494,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.839,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001145664.2",
"gene_symbol": "RFX8",
"hgnc_id": 37253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1417G>T",
"hgvs_p": "p.Val473Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}