← 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: 11-126343347-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126343347&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCPS",
"hgnc_id": 29812,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Gly233Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001350236.2",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "GSEC",
"hgnc_id": 48645,
"hgvs_c": "n.195C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000801035.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 7922,
"alphamissense_prediction": null,
"alphamissense_score": 0.1595,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Al-Raqad syndrome,DCPS-related disorder,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012222111225128174,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1014,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014026.6",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263579.5",
"protein_coding": true,
"protein_id": "NP_054745.1",
"strand": true,
"transcript": "NM_014026.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1014,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000263579.5",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014026.6",
"protein_coding": true,
"protein_id": "ENSP00000263579.4",
"strand": true,
"transcript": "ENST00000263579.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350236.2",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Gly233Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337165.1",
"strand": true,
"transcript": "NM_001350236.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861222.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Gly233Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531281.1",
"strand": true,
"transcript": "ENST00000861222.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1011,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912051.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582110.1",
"strand": true,
"transcript": "ENST00000912051.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 691,
"cds_end": null,
"cds_length": 999,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912055.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582114.1",
"strand": true,
"transcript": "ENST00000912055.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 665,
"cds_end": null,
"cds_length": 981,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912053.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Gly215Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582112.1",
"strand": true,
"transcript": "ENST00000912053.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 321,
"aa_ref": "G",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 653,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971356.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Gly210Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641415.1",
"strand": true,
"transcript": "ENST00000971356.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 584,
"cds_end": null,
"cds_length": 900,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861223.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531282.1",
"strand": true,
"transcript": "ENST00000861223.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 591,
"cds_end": null,
"cds_length": 894,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912052.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Gly186Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582111.1",
"strand": true,
"transcript": "ENST00000912052.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 276,
"aa_ref": "G",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 512,
"cds_end": null,
"cds_length": 831,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912054.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Gly165Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582113.1",
"strand": true,
"transcript": "ENST00000912054.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 244,
"aa_ref": "G",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 880,
"cds_end": null,
"cds_length": 735,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000648516.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497684.1",
"strand": true,
"transcript": "ENST00000648516.1",
"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": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529149.1",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "n.2027G>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": "ENST00000529149.1",
"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": 661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530860.5",
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"hgvs_c": "n.188G>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": "ENST00000530860.5",
"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": 933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000801035.1",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.195C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000801035.1",
"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": 1697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000629441.4",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.151-1025C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000629441.4",
"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": 900,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000702666.2",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.174-1025C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000702666.2",
"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": 690,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000801033.1",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.68-1025C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000801033.1",
"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": 857,
"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": "ENST00000801034.1",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.117-285C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000801034.1",
"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": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_033839.1",
"gene_hgnc_id": 48645,
"gene_symbol": "GSEC",
"hgvs_c": "n.147-1025C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_033839.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs35836343",
"effect": "missense_variant",
"frequency_reference_population": 0.0049086125,
"gene_hgnc_id": 29812,
"gene_symbol": "DCPS",
"gnomad_exomes_ac": 7313,
"gnomad_exomes_af": 0.00500323,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_ac": 609,
"gnomad_genomes_af": 0.00400021,
"gnomad_genomes_homalt": 9,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 40,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|Inborn genetic diseases|Al-Raqad syndrome|DCPS-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.487,
"pos": 126343347,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.383,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001350236.2"
}
]
}