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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: 13-113118455-GGCGGGTGGCGCAGGTCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113118455&ref=GGCGGGTGGCGCAGGTCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113118455,
"ref": "GGCGGGTGGCGCAGGTCA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000346342.8",
"consequences": [
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.783_799delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg262fs",
"transcript": "NM_019616.4",
"protein_id": "NP_062562.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 444,
"cds_start": 783,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": "ENST00000346342.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.783_799delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg262fs",
"transcript": "ENST00000346342.8",
"protein_id": "ENSP00000329546.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 444,
"cds_start": 783,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": "NM_019616.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.849_865delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg284fs",
"transcript": "ENST00000375581.3",
"protein_id": "ENSP00000364731.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 466,
"cds_start": 849,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.849_865delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg284fs",
"transcript": "NM_000131.5",
"protein_id": "NP_000122.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 466,
"cds_start": 849,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.597_613delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg200fs",
"transcript": "NM_001267554.2",
"protein_id": "NP_001254483.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 382,
"cds_start": 597,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.597_613delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg200fs",
"transcript": "ENST00000541084.5",
"protein_id": "ENSP00000442051.2",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 382,
"cds_start": 597,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.936_952delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg313fs",
"transcript": "XM_011537474.3",
"protein_id": "XP_011535776.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 495,
"cds_start": 936,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.807_823delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg270fs",
"transcript": "XM_047430125.1",
"protein_id": "XP_047286081.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 452,
"cds_start": 807,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.750_766delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg251fs",
"transcript": "XM_011537475.3",
"protein_id": "XP_011535777.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 433,
"cds_start": 750,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.687_703delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg230fs",
"transcript": "XM_006719963.4",
"protein_id": "XP_006720026.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 412,
"cds_start": 687,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRVAQVI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.543_559delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg182fs",
"transcript": "XM_011537476.3",
"protein_id": "XP_011535778.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 364,
"cds_start": 543,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "n.867_883delGCGGGTGGCGCAGGTCA",
"hgvs_p": null,
"transcript": "NR_051961.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"dbsnp": "rs786205091",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.061,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000346342.8",
"gene_symbol": "F7",
"hgnc_id": 3544,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.783_799delGCGGGTGGCGCAGGTCA",
"hgvs_p": "p.Arg262fs"
}
],
"clinvar_disease": "Congenital factor VII deficiency,Factor VII deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Factor VII deficiency|Congenital factor VII deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}