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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: 14-34713491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=34713491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 34713491,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000298159.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_138638.5",
"protein_id": "NP_619579.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": "ENST00000298159.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000298159.11",
"protein_id": "ENSP00000298159.6",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": "NM_138638.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000341223.8",
"protein_id": "ENSP00000340635.3",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "n.57+17C>T",
"hgvs_p": null,
"transcript": "ENST00000554470.5",
"protein_id": "ENSP00000450862.1",
"transcript_support_level": 1,
"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": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_021914.8",
"protein_id": "NP_068733.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000672163.1",
"protein_id": "ENSP00000500375.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000672517.1",
"protein_id": "ENSP00000500532.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Thr8Ile",
"transcript": "NM_001243645.2",
"protein_id": "NP_001230574.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 149,
"cds_start": 23,
"cds_end": null,
"cds_length": 450,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Thr8Ile",
"transcript": "ENST00000555765.5",
"protein_id": "ENSP00000452451.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 149,
"cds_start": 23,
"cds_end": null,
"cds_length": 450,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Thr8Ile",
"transcript": "ENST00000556161.1",
"protein_id": "ENSP00000452188.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 149,
"cds_start": 23,
"cds_end": null,
"cds_length": 450,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Thr8Ile",
"transcript": "ENST00000673315.1",
"protein_id": "ENSP00000500002.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 149,
"cds_start": 23,
"cds_end": null,
"cds_length": 450,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "n.74C>T",
"hgvs_p": null,
"transcript": "ENST00000422678.2",
"protein_id": "ENSP00000409326.2",
"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": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "n.127C>T",
"hgvs_p": null,
"transcript": "NR_028130.2",
"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": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"hgvs_c": "n.110+17C>T",
"hgvs_p": null,
"transcript": "NR_028131.2",
"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": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFL2",
"gene_hgnc_id": 1875,
"dbsnp": "rs797045460",
"frequency_reference_population": 0.000007526133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752613,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3222097158432007,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.027,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000298159.11",
"gene_symbol": "CFL2",
"hgnc_id": 1875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}