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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: 19-49365794-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49365794&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49365794,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000221498.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.326T>G",
"hgvs_p": "p.Met109Arg",
"transcript": "NM_014419.4",
"protein_id": "NP_055234.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 242,
"cds_start": 326,
"cds_end": null,
"cds_length": 729,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 939,
"mane_select": "ENST00000221498.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.326T>G",
"hgvs_p": "p.Met109Arg",
"transcript": "ENST00000221498.7",
"protein_id": "ENSP00000221498.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 242,
"cds_start": 326,
"cds_end": null,
"cds_length": 729,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 939,
"mane_select": "NM_014419.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "NM_001197302.2",
"protein_id": "NP_001184231.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 167,
"cds_start": 101,
"cds_end": null,
"cds_length": 504,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "ENST00000597873.5",
"protein_id": "ENSP00000472866.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 144,
"cds_start": 101,
"cds_end": null,
"cds_length": 437,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "ENST00000596402.1",
"protein_id": "ENSP00000470676.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 124,
"cds_start": 101,
"cds_end": null,
"cds_length": 375,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.371T>G",
"hgvs_p": "p.Met124Arg",
"transcript": "XM_006723142.3",
"protein_id": "XP_006723205.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 257,
"cds_start": 371,
"cds_end": null,
"cds_length": 774,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.347T>G",
"hgvs_p": "p.Met116Arg",
"transcript": "XM_011526725.2",
"protein_id": "XP_011525027.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 249,
"cds_start": 347,
"cds_end": null,
"cds_length": 750,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.347T>G",
"hgvs_p": "p.Met116Arg",
"transcript": "XM_011526726.3",
"protein_id": "XP_011525028.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 249,
"cds_start": 347,
"cds_end": null,
"cds_length": 750,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "XM_017026593.2",
"protein_id": "XP_016882082.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 167,
"cds_start": 101,
"cds_end": null,
"cds_length": 504,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "XM_047438609.1",
"protein_id": "XP_047294565.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 167,
"cds_start": 101,
"cds_end": null,
"cds_length": 504,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.101T>G",
"hgvs_p": "p.Met34Arg",
"transcript": "XM_047438610.1",
"protein_id": "XP_047294566.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 167,
"cds_start": 101,
"cds_end": null,
"cds_length": 504,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.324+145T>G",
"hgvs_p": null,
"transcript": "NM_001197301.2",
"protein_id": "NP_001184230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.324+145T>G",
"hgvs_p": null,
"transcript": "ENST00000597546.1",
"protein_id": "ENSP00000472056.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.99+1040T>G",
"hgvs_p": null,
"transcript": "ENST00000598682.1",
"protein_id": "ENSP00000471812.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.-10+3888T>G",
"hgvs_p": null,
"transcript": "ENST00000594268.1",
"protein_id": "ENSP00000469865.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.369+145T>G",
"hgvs_p": null,
"transcript": "XM_047438607.1",
"protein_id": "XP_047294563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"hgvs_c": "c.228+1040T>G",
"hgvs_p": null,
"transcript": "XM_047438608.1",
"protein_id": "XP_047294564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DKKL1",
"gene_hgnc_id": 16528,
"dbsnp": "rs2303759",
"frequency_reference_population": 0.27038035,
"hom_count_reference_population": 61977,
"allele_count_reference_population": 436137,
"gnomad_exomes_af": 0.270667,
"gnomad_genomes_af": 0.267625,
"gnomad_exomes_ac": 395457,
"gnomad_genomes_ac": 40680,
"gnomad_exomes_homalt": 56260,
"gnomad_genomes_homalt": 5717,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002113133668899536,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14399999380111694,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.2713,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.017,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.19,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0854280079974013,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000221498.7",
"gene_symbol": "DKKL1",
"hgnc_id": 16528,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.326T>G",
"hgvs_p": "p.Met109Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}