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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: 8-107901173-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=107901173&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 107901173,
"ref": "CC",
"alt": "TT",
"effect": "missense_variant",
"transcript": "NM_178565.5",
"consequences": [
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.633_634delGGinsAA",
"hgvs_p": "p.Ala212Thr",
"transcript": "NM_178565.5",
"protein_id": "NP_848660.3",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 243,
"cds_start": 633,
"cds_end": null,
"cds_length": 732,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": "ENST00000276659.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178565.5"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.633_634delGGinsAA",
"hgvs_p": "p.Ala212Thr",
"transcript": "ENST00000276659.10",
"protein_id": "ENSP00000276659.5",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 243,
"cds_start": 633,
"cds_end": null,
"cds_length": 732,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": "NM_178565.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276659.10"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.441_442delGGinsAA",
"hgvs_p": "p.Ala148Thr",
"transcript": "ENST00000517781.5",
"protein_id": "ENSP00000427937.1",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 179,
"cds_start": 441,
"cds_end": null,
"cds_length": 540,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517781.5"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.432_433delGGinsAA",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000517939.5",
"protein_id": "ENSP00000428940.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 176,
"cds_start": 432,
"cds_end": null,
"cds_length": 531,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517939.5"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.633_634delGGinsAA",
"hgvs_p": "p.Ala212Thr",
"transcript": "ENST00000971030.1",
"protein_id": "ENSP00000641089.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 243,
"cds_start": 633,
"cds_end": null,
"cds_length": 732,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971030.1"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.630_631delGGinsAA",
"hgvs_p": "p.Ala211Thr",
"transcript": "ENST00000851102.1",
"protein_id": "ENSP00000521161.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 242,
"cds_start": 630,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851102.1"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.621_622delGGinsAA",
"hgvs_p": "p.Ala208Thr",
"transcript": "ENST00000851104.1",
"protein_id": "ENSP00000521163.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 239,
"cds_start": 621,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851104.1"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.444_445delGGinsAA",
"hgvs_p": "p.Ala149Thr",
"transcript": "ENST00000971029.1",
"protein_id": "ENSP00000641088.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 180,
"cds_start": 444,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971029.1"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.441_442delGGinsAA",
"hgvs_p": "p.Ala148Thr",
"transcript": "NM_001282863.2",
"protein_id": "NP_001269792.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 179,
"cds_start": 441,
"cds_end": null,
"cds_length": 540,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282863.2"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.432_433delGGinsAA",
"hgvs_p": "p.Ala145Thr",
"transcript": "NM_001317942.2",
"protein_id": "NP_001304871.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 176,
"cds_start": 432,
"cds_end": null,
"cds_length": 531,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317942.2"
},
{
"aa_ref": "KA",
"aa_alt": "KT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "c.111_112delGGinsAA",
"hgvs_p": "p.Ala38Thr",
"transcript": "ENST00000851103.1",
"protein_id": "ENSP00000521162.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 69,
"cds_start": 111,
"cds_end": null,
"cds_length": 210,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.602_603delGGinsAA",
"hgvs_p": null,
"transcript": "ENST00000521502.5",
"protein_id": null,
"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": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.*712_*713delGGinsAA",
"hgvs_p": null,
"transcript": "ENST00000666252.1",
"protein_id": "ENSP00000499279.1",
"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": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000666252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"hgvs_c": "n.*712_*713delGGinsAA",
"hgvs_p": null,
"transcript": "ENST00000666252.1",
"protein_id": "ENSP00000499279.1",
"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": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000666252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287949",
"gene_hgnc_id": null,
"hgvs_c": "n.81-16997_81-16996delCCinsTT",
"hgvs_p": null,
"transcript": "ENST00000665144.1",
"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": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000665144.1"
}
],
"gene_symbol": "RSPO2",
"gene_hgnc_id": 28583,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.54,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_178565.5",
"gene_symbol": "RSPO2",
"hgnc_id": 28583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.633_634delGGinsAA",
"hgvs_p": "p.Ala212Thr"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000665144.1",
"gene_symbol": "ENSG00000287949",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81-16997_81-16996delCCinsTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}