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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: 1-85324859-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=85324859&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DDAH1",
"hgnc_id": 2715,
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_012137.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "BCL10-AS1",
"hgnc_id": 55868,
"hgvs_c": "n.181+47121G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000427819.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 184,
"alphamissense_prediction": null,
"alphamissense_score": 0.3332,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4523184299468994,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 736,
"cds_end": null,
"cds_length": 858,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_012137.4",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284031.13",
"protein_coding": true,
"protein_id": "NP_036269.1",
"strand": false,
"transcript": "NM_012137.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 736,
"cds_end": null,
"cds_length": 858,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000284031.13",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012137.4",
"protein_coding": true,
"protein_id": "ENSP00000284031.8",
"strand": false,
"transcript": "ENST00000284031.13",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 815,
"cds_end": null,
"cds_length": 549,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426972.8",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411189.4",
"strand": false,
"transcript": "ENST00000426972.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 245,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 616,
"cds_end": null,
"cds_length": 738,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866624.1",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536683.1",
"strand": false,
"transcript": "ENST00000866624.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 185,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3648,
"cdna_start": 445,
"cds_end": null,
"cds_length": 558,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330655.2",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317584.1",
"strand": false,
"transcript": "NM_001330655.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 185,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": 467,
"cds_end": null,
"cds_length": 558,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000633113.1",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488725.1",
"strand": false,
"transcript": "ENST00000633113.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 652,
"cds_end": null,
"cds_length": 549,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001134445.2",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001127917.1",
"strand": false,
"transcript": "NM_001134445.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 423,
"cds_end": null,
"cds_length": 579,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017000889.2",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856378.1",
"strand": false,
"transcript": "XM_017000889.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": 536,
"cds_end": null,
"cds_length": 573,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005270707.3",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270764.1",
"strand": false,
"transcript": "XM_005270707.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 185,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 524,
"cds_end": null,
"cds_length": 558,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011541158.2",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539460.1",
"strand": false,
"transcript": "XM_011541158.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 185,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 534,
"cds_end": null,
"cds_length": 558,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047416630.1",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272586.1",
"strand": false,
"transcript": "XM_047416630.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 679,
"cds_end": null,
"cds_length": 549,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005270710.3",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270767.1",
"strand": false,
"transcript": "XM_005270710.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 237,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3795,
"cdna_start": null,
"cds_end": null,
"cds_length": 714,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866623.1",
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"hgvs_c": "c.598-3291C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536682.1",
"strand": false,
"transcript": "ENST00000866623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426125.1",
"gene_hgnc_id": 55868,
"gene_symbol": "BCL10-AS1",
"hgvs_c": "n.67+47121G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000426125.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427819.5",
"gene_hgnc_id": 55868,
"gene_symbol": "BCL10-AS1",
"hgvs_c": "n.181+47121G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000427819.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000654182.1",
"gene_hgnc_id": 55868,
"gene_symbol": "BCL10-AS1",
"hgvs_c": "n.509-20708G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000654182.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377746010",
"effect": "missense_variant",
"frequency_reference_population": 0.00011399965,
"gene_hgnc_id": 2715,
"gene_symbol": "DDAH1",
"gnomad_exomes_ac": 173,
"gnomad_exomes_af": 0.000118344,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 11,
"gnomad_genomes_af": 0.0000722714,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.144,
"pos": 85324859,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.247,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_012137.4"
}
]
}