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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: 8-94378629-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94378629&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94378629,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012415.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Met751Ile",
"transcript": "NM_012415.3",
"protein_id": "NP_036547.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 910,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336148.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012415.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Met751Ile",
"transcript": "ENST00000336148.10",
"protein_id": "ENSP00000336606.5",
"transcript_support_level": 1,
"aa_start": 751,
"aa_end": null,
"aa_length": 910,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012415.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336148.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Met751Ile",
"transcript": "ENST00000911517.1",
"protein_id": "ENSP00000581576.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 941,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911517.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Met751Ile",
"transcript": "ENST00000911516.1",
"protein_id": "ENSP00000581575.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 907,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911516.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2241G>A",
"hgvs_p": "p.Met747Ile",
"transcript": "ENST00000911513.1",
"protein_id": "ENSP00000581572.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 906,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911513.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2145G>A",
"hgvs_p": "p.Met715Ile",
"transcript": "ENST00000911512.1",
"protein_id": "ENSP00000581571.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 874,
"cds_start": 2145,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911512.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2142G>A",
"hgvs_p": "p.Met714Ile",
"transcript": "ENST00000911514.1",
"protein_id": "ENSP00000581573.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 873,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911514.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Met686Ile",
"transcript": "ENST00000911519.1",
"protein_id": "ENSP00000581578.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 845,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911519.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.1776G>A",
"hgvs_p": "p.Met592Ile",
"transcript": "ENST00000871949.1",
"protein_id": "ENSP00000542008.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 751,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871949.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Met567Ile",
"transcript": "NM_001205263.2",
"protein_id": "NP_001192192.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 726,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205263.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.1179G>A",
"hgvs_p": "p.Met393Ile",
"transcript": "ENST00000911515.1",
"protein_id": "ENSP00000581574.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 552,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911515.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Met357Ile",
"transcript": "ENST00000911518.1",
"protein_id": "ENSP00000581577.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 516,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSBP",
"gene_hgnc_id": 43653,
"hgvs_c": "n.*1933G>A",
"hgvs_p": null,
"transcript": "ENST00000517506.2",
"protein_id": "ENSP00000462684.1",
"transcript_support_level": 5,
"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": "ENST00000517506.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSBP",
"gene_hgnc_id": 43653,
"hgvs_c": "n.*1933G>A",
"hgvs_p": null,
"transcript": "ENST00000517506.2",
"protein_id": "ENSP00000462684.1",
"transcript_support_level": 5,
"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": "ENST00000517506.2"
}
],
"gene_symbol": "RAD54B",
"gene_hgnc_id": 17228,
"dbsnp": "rs147396183",
"frequency_reference_population": 0.0000031169154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000275492,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.835391104221344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.519,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7489,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.701,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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_012415.3",
"gene_symbol": "RAD54B",
"hgnc_id": 17228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Met751Ile"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000517506.2",
"gene_symbol": "FSBP",
"hgnc_id": 43653,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1933G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}