← Back to variant description
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: 4-39274945-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39274945&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 39274945,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025132.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Glu1235Lys",
"transcript": "NM_025132.4",
"protein_id": "NP_079408.3",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399820.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025132.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Glu1235Lys",
"transcript": "ENST00000399820.8",
"protein_id": "ENSP00000382717.3",
"transcript_support_level": 1,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025132.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399820.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Glu1239Lys",
"transcript": "ENST00000959578.1",
"protein_id": "ENSP00000629637.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959578.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3637G>A",
"hgvs_p": "p.Glu1213Lys",
"transcript": "ENST00000919861.1",
"protein_id": "ENSP00000589920.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3637,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919861.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3637G>A",
"hgvs_p": "p.Glu1213Lys",
"transcript": "ENST00000867847.1",
"protein_id": "ENSP00000537906.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3637,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867847.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3625G>A",
"hgvs_p": "p.Glu1209Lys",
"transcript": "ENST00000867846.1",
"protein_id": "ENSP00000537905.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867846.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3223G>A",
"hgvs_p": "p.Glu1075Lys",
"transcript": "NM_001317924.2",
"protein_id": "NP_001304853.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317924.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Glu1239Lys",
"transcript": "XM_011513724.2",
"protein_id": "XP_011512026.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513724.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3649G>A",
"hgvs_p": "p.Glu1217Lys",
"transcript": "XM_011513725.3",
"protein_id": "XP_011512027.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3649,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513725.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3637G>A",
"hgvs_p": "p.Glu1213Lys",
"transcript": "XM_047416030.1",
"protein_id": "XP_047271986.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3637,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416030.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Glu1079Lys",
"transcript": "XM_047416033.1",
"protein_id": "XP_047271989.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.*1761G>A",
"hgvs_p": null,
"transcript": "XM_047416031.1",
"protein_id": "XP_047271987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": null,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "c.*1761G>A",
"hgvs_p": null,
"transcript": "XM_047416032.1",
"protein_id": "XP_047271988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "n.*3284G>A",
"hgvs_p": null,
"transcript": "ENST00000506869.5",
"protein_id": "ENSP00000424319.1",
"transcript_support_level": 2,
"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": "ENST00000506869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "n.2701G>A",
"hgvs_p": null,
"transcript": "ENST00000512095.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000512095.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "n.2014G>A",
"hgvs_p": null,
"transcript": "ENST00000512534.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000512534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"hgvs_c": "n.*3284G>A",
"hgvs_p": null,
"transcript": "ENST00000506869.5",
"protein_id": "ENSP00000424319.1",
"transcript_support_level": 2,
"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": "ENST00000506869.5"
}
],
"gene_symbol": "WDR19",
"gene_hgnc_id": 18340,
"dbsnp": "rs587777351",
"frequency_reference_population": 0.000009294498,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957801,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8641324043273926,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.679,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6429,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.96,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_025132.4",
"gene_symbol": "WDR19",
"hgnc_id": 18340,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Glu1235Lys"
}
],
"clinvar_disease": "Asphyxiating thoracic dystrophy 5,Cranioectodermal dysplasia 4,Nephronophthisis 13,Senior-Loken syndrome 8,Spermatogenic failure 72,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:3",
"phenotype_combined": "Nephronophthisis 13|Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5;Senior-Loken syndrome 8|not provided|Cranioectodermal dysplasia 4;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Senior-Loken syndrome 8",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}