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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: 8-2942527-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=2942527&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 2942527,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033225.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10480G>C",
"hgvs_p": "p.Val3494Leu",
"transcript": "NM_033225.6",
"protein_id": "NP_150094.5",
"transcript_support_level": null,
"aa_start": 3494,
"aa_end": null,
"aa_length": 3564,
"cds_start": 10480,
"cds_end": null,
"cds_length": 10695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635120.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033225.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10480G>C",
"hgvs_p": "p.Val3494Leu",
"transcript": "ENST00000635120.2",
"protein_id": "ENSP00000489225.1",
"transcript_support_level": 5,
"aa_start": 3494,
"aa_end": null,
"aa_length": 3564,
"cds_start": 10480,
"cds_end": null,
"cds_length": 10695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033225.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635120.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.8686G>C",
"hgvs_p": "p.Val2896Leu",
"transcript": "ENST00000335551.11",
"protein_id": "ENSP00000334828.6",
"transcript_support_level": 1,
"aa_start": 2896,
"aa_end": null,
"aa_length": 2966,
"cds_start": 8686,
"cds_end": null,
"cds_length": 8901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335551.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10483G>C",
"hgvs_p": "p.Val3495Leu",
"transcript": "ENST00000520002.5",
"protein_id": "ENSP00000430733.1",
"transcript_support_level": 5,
"aa_start": 3495,
"aa_end": null,
"aa_length": 3565,
"cds_start": 10483,
"cds_end": null,
"cds_length": 10698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520002.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10483G>C",
"hgvs_p": "p.Val3495Leu",
"transcript": "ENST00000602557.5",
"protein_id": "ENSP00000473359.1",
"transcript_support_level": 5,
"aa_start": 3495,
"aa_end": null,
"aa_length": 3565,
"cds_start": 10483,
"cds_end": null,
"cds_length": 10698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602557.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.9952G>C",
"hgvs_p": "p.Val3318Leu",
"transcript": "ENST00000400186.7",
"protein_id": "ENSP00000383047.3",
"transcript_support_level": 5,
"aa_start": 3318,
"aa_end": null,
"aa_length": 3388,
"cds_start": 9952,
"cds_end": null,
"cds_length": 10167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400186.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.9952G>C",
"hgvs_p": "p.Val3318Leu",
"transcript": "ENST00000602723.5",
"protein_id": "ENSP00000473617.1",
"transcript_support_level": 5,
"aa_start": 3318,
"aa_end": null,
"aa_length": 3388,
"cds_start": 9952,
"cds_end": null,
"cds_length": 10167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602723.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10435G>C",
"hgvs_p": "p.Val3479Leu",
"transcript": "XM_011534752.3",
"protein_id": "XP_011533054.1",
"transcript_support_level": null,
"aa_start": 3479,
"aa_end": null,
"aa_length": 3549,
"cds_start": 10435,
"cds_end": null,
"cds_length": 10650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534752.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.7573G>C",
"hgvs_p": "p.Val2525Leu",
"transcript": "XM_011534753.4",
"protein_id": "XP_011533055.1",
"transcript_support_level": null,
"aa_start": 2525,
"aa_end": null,
"aa_length": 2595,
"cds_start": 7573,
"cds_end": null,
"cds_length": 7788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534753.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6502G>C",
"hgvs_p": "p.Val2168Leu",
"transcript": "XM_011534754.2",
"protein_id": "XP_011533056.1",
"transcript_support_level": null,
"aa_start": 2168,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6502,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534754.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1167-58478C>G",
"hgvs_p": null,
"transcript": "NR_168441.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.2191+15897C>G",
"hgvs_p": null,
"transcript": "NR_168442.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1172-66041C>G",
"hgvs_p": null,
"transcript": "NR_168443.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1167-47011C>G",
"hgvs_p": null,
"transcript": "NR_168444.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1250-47011C>G",
"hgvs_p": null,
"transcript": "NR_168445.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168445.1"
}
],
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"dbsnp": "rs561767929",
"frequency_reference_population": 0.000017998762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.00000890985,
"gnomad_genomes_af": 0.000105151,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3363308608531952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.399,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.642,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_033225.6",
"gene_symbol": "CSMD1",
"hgnc_id": 14026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10480G>C",
"hgvs_p": "p.Val3494Leu"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NR_168441.1",
"gene_symbol": "LOC105377785",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1167-58478C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}