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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: 17-75815253-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75815253&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75815253,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001080419.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu",
"transcript": "NM_001080419.3",
"protein_id": "NP_001073888.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 810,
"cds_start": 961,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000589666.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080419.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu",
"transcript": "ENST00000589666.6",
"protein_id": "ENSP00000464893.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 810,
"cds_start": 961,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080419.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589666.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Gln360Glu",
"transcript": "ENST00000925670.1",
"protein_id": "ENSP00000595729.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 849,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925670.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu",
"transcript": "ENST00000925669.1",
"protein_id": "ENSP00000595728.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 798,
"cds_start": 961,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925669.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.922C>G",
"hgvs_p": "p.Gln308Glu",
"transcript": "ENST00000925668.1",
"protein_id": "ENSP00000595727.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 797,
"cds_start": 922,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925668.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu",
"transcript": "ENST00000925671.1",
"protein_id": "ENSP00000595730.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 797,
"cds_start": 961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925671.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Gln350Glu",
"transcript": "XM_017025248.2",
"protein_id": "XP_016880737.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 839,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025248.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Gln350Glu",
"transcript": "XM_047436962.1",
"protein_id": "XP_047292918.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 839,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436962.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Gln350Glu",
"transcript": "XM_047436963.1",
"protein_id": "XP_047292919.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 827,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436963.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu",
"transcript": "XM_047436964.1",
"protein_id": "XP_047292920.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 798,
"cds_start": 961,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436964.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.859C>G",
"hgvs_p": "p.Gln287Glu",
"transcript": "XM_017025249.2",
"protein_id": "XP_016880738.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 776,
"cds_start": 859,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025249.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.859C>G",
"hgvs_p": "p.Gln287Glu",
"transcript": "XM_047436965.1",
"protein_id": "XP_047292921.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 776,
"cds_start": 859,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436965.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "XM_006722148.3",
"protein_id": "XP_006722211.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 642,
"cds_start": 457,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722148.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "XM_011525400.2",
"protein_id": "XP_011523702.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 642,
"cds_start": 457,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525400.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "XM_047436966.1",
"protein_id": "XP_047292922.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 642,
"cds_start": 457,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436966.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "XM_011525401.3",
"protein_id": "XP_011523703.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 520,
"cds_start": 91,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525401.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "n.*475C>G",
"hgvs_p": null,
"transcript": "ENST00000586217.1",
"protein_id": "ENSP00000466054.1",
"transcript_support_level": 3,
"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": "ENST00000586217.1"
}
],
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"dbsnp": "rs2143796334",
"frequency_reference_population": 0.0000061630667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616307,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12730374932289124,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3059999942779541,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.089,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.072,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.188679083562317,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001080419.3",
"gene_symbol": "UNK",
"hgnc_id": 29369,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Gln321Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}