← 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: 11-124891545-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124891545&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PVS1",
"PP5",
"BS2_Supporting"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ROBO4",
"hgnc_id": 17985,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 8,
"transcript": "NM_019055.6",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000254943",
"hgnc_id": null,
"hgvs_c": "n.242G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000524433.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5,BS2_Supporting",
"acmg_score": 8,
"allele_count_reference_population": 92,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Aortic valve disease 3,Ascending tubular aorta aneurysm,Bicuspid aortic valve,ROBO4-related disorder",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_019055.6",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306534.8",
"protein_coding": true,
"protein_id": "NP_061928.4",
"strand": false,
"transcript": "NM_019055.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 3024,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000306534.8",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019055.6",
"protein_coding": true,
"protein_id": "ENSP00000304945.3",
"strand": false,
"transcript": "ENST00000306534.8",
"transcript_support_level": 1
},
{
"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": 3904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534407.5",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "n.1378C>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": "ENST00000534407.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877825.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547884.1",
"strand": false,
"transcript": "ENST00000877825.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 3018,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877820.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547879.1",
"strand": false,
"transcript": "ENST00000877820.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 3012,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877818.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547877.1",
"strand": false,
"transcript": "ENST00000877818.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 969,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001441183.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428112.1",
"strand": false,
"transcript": "NM_001441183.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 969,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877819.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547878.1",
"strand": false,
"transcript": "ENST00000877819.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 2907,
"cds_start": 1699,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954783.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Arg567*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624842.1",
"strand": false,
"transcript": "ENST00000954783.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2853,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877821.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547880.1",
"strand": false,
"transcript": "ENST00000877821.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 2838,
"cds_start": 1516,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000877822.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547881.1",
"strand": false,
"transcript": "ENST00000877822.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000877817.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547876.1",
"strand": false,
"transcript": "ENST00000877817.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1267,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001301088.2",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288017.1",
"strand": false,
"transcript": "NM_001301088.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1267,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000533054.5",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437129.1",
"strand": false,
"transcript": "ENST00000533054.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1186,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000877824.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547883.1",
"strand": false,
"transcript": "ENST00000877824.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1698,
"cds_start": 376,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011542875.2",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541177.1",
"strand": false,
"transcript": "XM_011542875.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 593,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": null,
"cds_end": null,
"cds_length": 1782,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877823.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "c.707-3705C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547882.1",
"strand": false,
"transcript": "ENST00000877823.1",
"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": 1212,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524433.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000254943",
"hgvs_c": "n.242G>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": "ENST00000524433.2",
"transcript_support_level": 4
},
{
"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": 686,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525182.1",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "n.629C>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": "ENST00000525182.1",
"transcript_support_level": 3
},
{
"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": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532216.5",
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"hgvs_c": "n.291C>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": "ENST00000532216.5",
"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": 1057,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000828696.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000254943",
"hgvs_c": "n.97G>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": "ENST00000828696.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201492213",
"effect": "stop_gained",
"frequency_reference_population": 0.000056998273,
"gene_hgnc_id": 17985,
"gene_symbol": "ROBO4",
"gnomad_exomes_ac": 87,
"gnomad_exomes_af": 0.0000595123,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328511,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Ascending tubular aorta aneurysm;Bicuspid aortic valve|Aortic valve disease 3|ROBO4-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.201,
"pos": 124891545,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_019055.6"
}
]
}