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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: 1-172468452-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=172468452&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 172468452,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367727.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Ser137Ile",
"transcript": "NM_139240.4",
"protein_id": "NP_640333.3",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 183,
"cds_start": 410,
"cds_end": null,
"cds_length": 552,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 988,
"mane_select": "ENST00000367727.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Ser137Ile",
"transcript": "ENST00000367727.9",
"protein_id": "ENSP00000356700.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 183,
"cds_start": 410,
"cds_end": null,
"cds_length": 552,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 988,
"mane_select": "NM_139240.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Ser127Ile",
"transcript": "NM_001300760.1",
"protein_id": "NP_001287689.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 173,
"cds_start": 380,
"cds_end": null,
"cds_length": 522,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Ser127Ile",
"transcript": "ENST00000367725.4",
"protein_id": "ENSP00000356698.4",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 173,
"cds_start": 380,
"cds_end": null,
"cds_length": 522,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.491G>T",
"hgvs_p": "p.Ser164Ile",
"transcript": "XM_011510152.3",
"protein_id": "XP_011508454.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 210,
"cds_start": 491,
"cds_end": null,
"cds_length": 633,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Ser137Ile",
"transcript": "XM_005245608.4",
"protein_id": "XP_005245665.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 183,
"cds_start": 410,
"cds_end": null,
"cds_length": 552,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Ser133Ile",
"transcript": "XM_011510153.3",
"protein_id": "XP_011508455.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 179,
"cds_start": 398,
"cds_end": null,
"cds_length": 540,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.257G>T",
"hgvs_p": "p.Ser86Ile",
"transcript": "XM_005245610.5",
"protein_id": "XP_005245667.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 132,
"cds_start": 257,
"cds_end": null,
"cds_length": 399,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.257G>T",
"hgvs_p": "p.Ser86Ile",
"transcript": "XM_011510154.3",
"protein_id": "XP_011508456.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 132,
"cds_start": 257,
"cds_end": null,
"cds_length": 399,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.257G>T",
"hgvs_p": "p.Ser86Ile",
"transcript": "XM_017002808.1",
"protein_id": "XP_016858297.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 132,
"cds_start": 257,
"cds_end": null,
"cds_length": 399,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.233G>T",
"hgvs_p": "p.Ser78Ile",
"transcript": "XM_006711630.3",
"protein_id": "XP_006711693.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 124,
"cds_start": 233,
"cds_end": null,
"cds_length": 375,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.233G>T",
"hgvs_p": "p.Ser78Ile",
"transcript": "XM_011510156.3",
"protein_id": "XP_011508458.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 124,
"cds_start": 233,
"cds_end": null,
"cds_length": 375,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 811,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "n.214G>T",
"hgvs_p": null,
"transcript": "ENST00000367726.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"dbsnp": "rs1129942",
"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": 0.23810961842536926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.2724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.313,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367727.9",
"gene_symbol": "C1orf105",
"hgnc_id": 29591,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Ser137Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}