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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: 17-7226597-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7226597&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DVL2",
"hgnc_id": 3086,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Gly529Glu",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004422.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9031,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7953926920890808,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 736,
"aa_ref": "G",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004422.3",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Gly529Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000005340.10",
"protein_coding": true,
"protein_id": "NP_004413.1",
"strand": false,
"transcript": "NM_004422.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 736,
"aa_ref": "G",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000005340.10",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Gly529Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004422.3",
"protein_coding": true,
"protein_id": "ENSP00000005340.4",
"strand": false,
"transcript": "ENST00000005340.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 758,
"aa_ref": "G",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951245.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Gly551Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621304.1",
"strand": false,
"transcript": "ENST00000951245.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 754,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930220.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Gly547Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600279.1",
"strand": false,
"transcript": "ENST00000930220.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 754,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930222.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Gly547Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600281.1",
"strand": false,
"transcript": "ENST00000930222.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 734,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000904799.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Gly527Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574858.1",
"strand": false,
"transcript": "ENST00000904799.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 730,
"aa_ref": "G",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000575458.5",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Gly523Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459797.1",
"strand": false,
"transcript": "ENST00000575458.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 726,
"aa_ref": "G",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930218.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Gly519Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600277.1",
"strand": false,
"transcript": "ENST00000930218.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930219.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Gly502Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600278.1",
"strand": false,
"transcript": "ENST00000930219.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 700,
"aa_ref": "G",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000951246.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Gly493Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621305.1",
"strand": false,
"transcript": "ENST00000951246.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 666,
"aa_ref": "G",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951247.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Gly459Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621306.1",
"strand": false,
"transcript": "ENST00000951247.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 662,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930223.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Gly455Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600282.1",
"strand": false,
"transcript": "ENST00000930223.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 654,
"aa_ref": "G",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930221.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Gly447Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600280.1",
"strand": false,
"transcript": "ENST00000930221.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 298,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 547,
"cds_end": null,
"cds_length": 898,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000575086.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458465.1",
"strand": false,
"transcript": "ENST00000575086.1",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005256502.3",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Gly525Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256559.1",
"strand": false,
"transcript": "XM_005256502.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 634,
"aa_ref": "G",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047435518.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291474.1",
"strand": false,
"transcript": "XM_047435518.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 476,
"aa_ref": "G",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1431,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047435522.1",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Gly269Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291478.1",
"strand": false,
"transcript": "XM_047435522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576840.5",
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"hgvs_c": "n.*59G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000576840.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1179132425",
"effect": "missense_variant",
"frequency_reference_population": 0.000002083203,
"gene_hgnc_id": 3086,
"gene_symbol": "DVL2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.0000020832,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 7226597,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.42,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004422.3"
}
]
}