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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: 6-110393224-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110393224&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110393224,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001372108.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "NM_001372108.2",
"protein_id": "NP_001359037.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 341,
"cds_start": 577,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368924.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372108.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000368924.9",
"protein_id": "ENSP00000357920.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 341,
"cds_start": 577,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368924.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000854440.1",
"protein_id": "ENSP00000524499.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 341,
"cds_start": 577,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854440.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000854441.1",
"protein_id": "ENSP00000524500.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 341,
"cds_start": 577,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854441.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000951845.1",
"protein_id": "ENSP00000621904.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 341,
"cds_start": 577,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951845.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Asp168Asn",
"transcript": "ENST00000951847.1",
"protein_id": "ENSP00000621906.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 316,
"cds_start": 502,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951847.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Asp139Asn",
"transcript": "NM_001368170.1",
"protein_id": "NP_001355099.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 287,
"cds_start": 415,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368170.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "NM_004032.3",
"protein_id": "NP_004023.3",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004032.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "ENST00000368923.8",
"protein_id": "ENSP00000357919.4",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368923.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "ENST00000854438.1",
"protein_id": "ENSP00000524497.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854438.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "ENST00000854439.1",
"protein_id": "ENSP00000524498.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854439.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "ENST00000951844.1",
"protein_id": "ENSP00000621903.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951844.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "ENST00000951846.1",
"protein_id": "ENSP00000621905.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 282,
"cds_start": 400,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951846.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Asp80Asn",
"transcript": "NM_001368171.1",
"protein_id": "NP_001355100.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 228,
"cds_start": 238,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368171.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Asp75Asn",
"transcript": "NM_001368174.1",
"protein_id": "NP_001355103.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 223,
"cds_start": 223,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368174.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Asp75Asn",
"transcript": "NM_001368175.1",
"protein_id": "NP_001355104.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 223,
"cds_start": 223,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368175.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "NM_001368172.1",
"protein_id": "NP_001355101.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 210,
"cds_start": 577,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368172.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Asp134Asn",
"transcript": "NM_001368173.1",
"protein_id": "NP_001355102.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 151,
"cds_start": 400,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368173.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "n.*219G>A",
"hgvs_p": null,
"transcript": "ENST00000479373.1",
"protein_id": "ENSP00000436642.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "NR_160546.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"hgvs_c": "n.*219G>A",
"hgvs_p": null,
"transcript": "ENST00000479373.1",
"protein_id": "ENSP00000436642.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479373.1"
}
],
"gene_symbol": "DDO",
"gene_hgnc_id": 2727,
"dbsnp": "rs1327674266",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9839892983436584,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.699,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8286,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.332,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001372108.2",
"gene_symbol": "DDO",
"hgnc_id": 2727,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}