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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: 8-3107722-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=3107722&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 3107722,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000635120.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6831A>T",
"hgvs_p": "p.Glu2277Asp",
"transcript": "NM_033225.6",
"protein_id": "NP_150094.5",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 3564,
"cds_start": 6831,
"cds_end": null,
"cds_length": 10695,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 14417,
"mane_select": "ENST00000635120.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6831A>T",
"hgvs_p": "p.Glu2277Asp",
"transcript": "ENST00000635120.2",
"protein_id": "ENSP00000489225.1",
"transcript_support_level": 5,
"aa_start": 2277,
"aa_end": null,
"aa_length": 3564,
"cds_start": 6831,
"cds_end": null,
"cds_length": 10695,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 14417,
"mane_select": "NM_033225.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.5271A>T",
"hgvs_p": "p.Glu1757Asp",
"transcript": "ENST00000335551.11",
"protein_id": "ENSP00000334828.6",
"transcript_support_level": 1,
"aa_start": 1757,
"aa_end": null,
"aa_length": 2966,
"cds_start": 5271,
"cds_end": null,
"cds_length": 8901,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 12134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6834A>T",
"hgvs_p": "p.Glu2278Asp",
"transcript": "ENST00000520002.5",
"protein_id": "ENSP00000430733.1",
"transcript_support_level": 5,
"aa_start": 2278,
"aa_end": null,
"aa_length": 3565,
"cds_start": 6834,
"cds_end": null,
"cds_length": 10698,
"cdna_start": 7390,
"cdna_end": null,
"cdna_length": 11740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6834A>T",
"hgvs_p": "p.Glu2278Asp",
"transcript": "ENST00000602557.5",
"protein_id": "ENSP00000473359.1",
"transcript_support_level": 5,
"aa_start": 2278,
"aa_end": null,
"aa_length": 3565,
"cds_start": 6834,
"cds_end": null,
"cds_length": 10698,
"cdna_start": 7390,
"cdna_end": null,
"cdna_length": 11740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6834A>T",
"hgvs_p": "p.Glu2278Asp",
"transcript": "ENST00000400186.7",
"protein_id": "ENSP00000383047.3",
"transcript_support_level": 5,
"aa_start": 2278,
"aa_end": null,
"aa_length": 3388,
"cds_start": 6834,
"cds_end": null,
"cds_length": 10167,
"cdna_start": 7119,
"cdna_end": null,
"cdna_length": 10938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6834A>T",
"hgvs_p": "p.Glu2278Asp",
"transcript": "ENST00000602723.5",
"protein_id": "ENSP00000473617.1",
"transcript_support_level": 5,
"aa_start": 2278,
"aa_end": null,
"aa_length": 3388,
"cds_start": 6834,
"cds_end": null,
"cds_length": 10167,
"cdna_start": 7119,
"cdna_end": null,
"cdna_length": 10938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6831A>T",
"hgvs_p": "p.Glu2277Asp",
"transcript": "XM_011534752.3",
"protein_id": "XP_011533054.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 3549,
"cds_start": 6831,
"cds_end": null,
"cds_length": 10650,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 14372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6831A>T",
"hgvs_p": "p.Glu2277Asp",
"transcript": "XM_017013731.2",
"protein_id": "XP_016869220.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 3327,
"cds_start": 6831,
"cds_end": null,
"cds_length": 9984,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 11878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.3924A>T",
"hgvs_p": "p.Glu1308Asp",
"transcript": "XM_011534753.4",
"protein_id": "XP_011533055.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 2595,
"cds_start": 3924,
"cds_end": null,
"cds_length": 7788,
"cdna_start": 4330,
"cdna_end": null,
"cdna_length": 11418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.2853A>T",
"hgvs_p": "p.Glu951Asp",
"transcript": "XM_011534754.2",
"protein_id": "XP_011533056.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 2238,
"cds_start": 2853,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 10215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"dbsnp": "rs3824271",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23200836777687073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.4032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.126,
"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": 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": "ENST00000635120.2",
"gene_symbol": "CSMD1",
"hgnc_id": 14026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6831A>T",
"hgvs_p": "p.Glu2277Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}