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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: 4-78265017-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=78265017&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 78265017,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000512123.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "NM_025074.7",
"protein_id": "NP_079350.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4012,
"cds_start": -4,
"cds_end": null,
"cds_length": 12039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15871,
"mane_select": "ENST00000512123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000512123.4",
"protein_id": "ENSP00000422834.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4012,
"cds_start": -4,
"cds_end": null,
"cds_length": 12039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15871,
"mane_select": "NM_025074.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000325942.11",
"protein_id": "ENSP00000326330.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1976,
"cds_start": -4,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000508900.2",
"protein_id": "ENSP00000423809.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000682513.1",
"protein_id": "ENSP00000508201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3349,
"cds_start": -4,
"cds_end": null,
"cds_length": 10050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000684159.1",
"protein_id": "ENSP00000506875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2171,
"cds_start": -4,
"cds_end": null,
"cds_length": 6516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "NM_001166133.2",
"protein_id": "NP_001159605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1976,
"cds_start": -4,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "c.604-8G>A",
"hgvs_p": null,
"transcript": "ENST00000502446.6",
"protein_id": "ENSP00000423645.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"hgvs_c": "n.924-8G>A",
"hgvs_p": null,
"transcript": "ENST00000683711.1",
"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": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRAS1",
"gene_hgnc_id": 19185,
"dbsnp": "rs2867014",
"frequency_reference_population": 0.9849116,
"hom_count_reference_population": 759364,
"allele_count_reference_population": 1539015,
"gnomad_exomes_af": 0.9898,
"gnomad_genomes_af": 0.939618,
"gnomad_exomes_ac": 1395975,
"gnomad_genomes_ac": 143040,
"gnomad_exomes_homalt": 691647,
"gnomad_genomes_homalt": 67717,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.06800000369548798,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.085,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000751371493771903,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000512123.4",
"gene_symbol": "FRAS1",
"hgnc_id": 19185,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.604-8G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Fraser syndrome 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Fraser syndrome 1|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}