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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: 10-68989100-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68989100&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68989100,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000361983.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "NM_015634.4",
"protein_id": "NP_056449.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 621,
"cds_start": 268,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": "ENST00000361983.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000361983.7",
"protein_id": "ENSP00000354848.4",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 621,
"cds_start": 268,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": "NM_015634.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000638119.2",
"protein_id": "ENSP00000490026.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 646,
"cds_start": 268,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000674660.1",
"protein_id": "ENSP00000502562.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 604,
"cds_start": 268,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000675576.1",
"protein_id": "ENSP00000502750.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 588,
"cds_start": 268,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000635971.2",
"protein_id": "ENSP00000489878.2",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 312,
"cds_start": 268,
"cds_end": null,
"cds_length": 939,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000626493.2",
"protein_id": "ENSP00000486692.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 297,
"cds_start": 268,
"cds_end": null,
"cds_length": 894,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*",
"transcript": "ENST00000674936.1",
"protein_id": "ENSP00000502484.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 204,
"cds_start": 268,
"cds_end": null,
"cds_length": 615,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2073,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.298C>T",
"hgvs_p": null,
"transcript": "ENST00000625461.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 890,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000635779.2",
"protein_id": "ENSP00000489663.1",
"transcript_support_level": 5,
"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": 2583,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000636200.2",
"protein_id": "ENSP00000490113.2",
"transcript_support_level": 5,
"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": 2848,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000637101.2",
"protein_id": "ENSP00000490704.1",
"transcript_support_level": 5,
"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": 2601,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000637104.2",
"protein_id": "ENSP00000490019.2",
"transcript_support_level": 5,
"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": 2438,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000637323.2",
"protein_id": "ENSP00000489659.2",
"transcript_support_level": 5,
"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": 2558,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000637420.2",
"protein_id": "ENSP00000490404.2",
"transcript_support_level": 5,
"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": 2625,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000637738.2",
"protein_id": "ENSP00000490742.2",
"transcript_support_level": 5,
"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": 2546,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.298C>T",
"hgvs_p": null,
"transcript": "ENST00000674688.1",
"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": 4294,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000676080.1",
"protein_id": "ENSP00000502706.1",
"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": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"dbsnp": "rs121434514",
"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": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.125,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361983.7",
"gene_symbol": "KIFBP",
"hgnc_id": 23419,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90*"
}
],
"clinvar_disease": "Goldberg-Shprintzen syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Goldberg-Shprintzen syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}