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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: 5-131431028-ACT-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=131431028&ref=ACT&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RAPGEF6",
"hgnc_id": 20655,
"hgvs_c": "c.4318_4320delAGTinsTCA",
"hgvs_p": "p.1441",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001164386.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000273217",
"hgnc_id": null,
"hgvs_c": "c.4444_4446delAGTinsTCA",
"hgvs_p": "p.1483",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000514667.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1601,
"aa_ref": "S",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8350,
"cdna_start": 4495,
"cds_end": null,
"cds_length": 4806,
"cds_start": 4294,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016340.6",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4294_4296delAGTinsTCA",
"hgvs_p": "p.1433",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000509018.6",
"protein_coding": true,
"protein_id": "NP_057424.3",
"strand": false,
"transcript": "NM_016340.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1601,
"aa_ref": "S",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8350,
"cdna_start": 4495,
"cds_end": null,
"cds_length": 4806,
"cds_start": 4294,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509018.6",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4294_4296delAGTinsTCA",
"hgvs_p": "p.1433",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016340.6",
"protein_coding": true,
"protein_id": "ENSP00000421684.1",
"strand": false,
"transcript": "ENST00000509018.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "S",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6393,
"cdna_start": 4508,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4444,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514667.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000273217",
"hgvs_c": "c.4444_4446delAGTinsTCA",
"hgvs_p": "p.1483",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426948.1",
"strand": false,
"transcript": "ENST00000514667.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 4401,
"cds_end": null,
"cds_length": 4830,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296859.10",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4318_4320delAGTinsTCA",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296859.6",
"strand": false,
"transcript": "ENST00000296859.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1509,
"aa_ref": "S",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5742,
"cdna_start": 4517,
"cds_end": null,
"cds_length": 4530,
"cds_start": 4333,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507093.5",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4333_4335delAGTinsTCA",
"hgvs_p": "p.1446",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426081.2",
"strand": false,
"transcript": "ENST00000507093.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 4449,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000627212.2",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4318_4320delAGTinsTCA",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487439.1",
"strand": false,
"transcript": "ENST00000627212.2",
"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": 3683,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000512611.5",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "n.1792_1794delAGTinsTCA",
"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": "ENST00000512611.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8374,
"cdna_start": 4519,
"cds_end": null,
"cds_length": 4830,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164386.2",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4318_4320delAGTinsTCA",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157858.1",
"strand": false,
"transcript": "NM_001164386.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "S",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6308,
"cdna_start": 4440,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4234,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952737.1",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4234_4236delAGTinsTCA",
"hgvs_p": "p.1413",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622796.1",
"strand": false,
"transcript": "ENST00000952737.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "S",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8269,
"cdna_start": 4414,
"cds_end": null,
"cds_length": 4722,
"cds_start": 4210,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934140.1",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4210_4212delAGTinsTCA",
"hgvs_p": "p.1405",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604199.1",
"strand": false,
"transcript": "ENST00000934140.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1509,
"aa_ref": "S",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8074,
"cdna_start": 4534,
"cds_end": null,
"cds_length": 4530,
"cds_start": 4333,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164387.2",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4333_4335delAGTinsTCA",
"hgvs_p": "p.1446",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157859.1",
"strand": false,
"transcript": "NM_001164387.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8059,
"cdna_start": 4519,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164388.2",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4318_4320delAGTinsTCA",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157860.1",
"strand": false,
"transcript": "NM_001164388.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "S",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 4500,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4294,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952736.1",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.4294_4296delAGTinsTCA",
"hgvs_p": "p.1433",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622795.1",
"strand": false,
"transcript": "ENST00000952736.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "S",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7161,
"cdna_start": 3306,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3292,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671916.1",
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"hgvs_c": "c.3292_3294delAGTinsTCA",
"hgvs_p": "p.1099",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500379.1",
"strand": false,
"transcript": "ENST00000671916.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20655,
"gene_symbol": "RAPGEF6",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 7.044,
"pos": 131431028,
"ref": "ACT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001164386.2"
}
]
}