← Back to variant description
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: 8-112237297-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=112237297&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 112237297,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198123.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10520T>C",
"hgvs_p": "p.Phe3507Ser",
"transcript": "NM_198123.2",
"protein_id": "NP_937756.1",
"transcript_support_level": null,
"aa_start": 3507,
"aa_end": null,
"aa_length": 3707,
"cds_start": 10520,
"cds_end": null,
"cds_length": 11124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297405.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198123.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10520T>C",
"hgvs_p": "p.Phe3507Ser",
"transcript": "ENST00000297405.10",
"protein_id": "ENSP00000297405.5",
"transcript_support_level": 1,
"aa_start": 3507,
"aa_end": null,
"aa_length": 3707,
"cds_start": 10520,
"cds_end": null,
"cds_length": 11124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198123.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297405.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10400T>C",
"hgvs_p": "p.Phe3467Ser",
"transcript": "ENST00000343508.7",
"protein_id": "ENSP00000345799.3",
"transcript_support_level": 1,
"aa_start": 3467,
"aa_end": null,
"aa_length": 3667,
"cds_start": 10400,
"cds_end": null,
"cds_length": 11004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343508.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10013T>C",
"hgvs_p": "p.Phe3338Ser",
"transcript": "ENST00000455883.2",
"protein_id": "ENSP00000412263.2",
"transcript_support_level": 1,
"aa_start": 3338,
"aa_end": null,
"aa_length": 3538,
"cds_start": 10013,
"cds_end": null,
"cds_length": 10617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455883.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.8330T>C",
"hgvs_p": "p.Phe2777Ser",
"transcript": "ENST00000339701.7",
"protein_id": "ENSP00000341558.3",
"transcript_support_level": 1,
"aa_start": 2777,
"aa_end": null,
"aa_length": 2977,
"cds_start": 8330,
"cds_end": null,
"cds_length": 8934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339701.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10400T>C",
"hgvs_p": "p.Phe3467Ser",
"transcript": "NM_198124.2",
"protein_id": "NP_937757.1",
"transcript_support_level": null,
"aa_start": 3467,
"aa_end": null,
"aa_length": 3667,
"cds_start": 10400,
"cds_end": null,
"cds_length": 11004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198124.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10013T>C",
"hgvs_p": "p.Phe3338Ser",
"transcript": "NM_052900.3",
"protein_id": "NP_443132.3",
"transcript_support_level": null,
"aa_start": 3338,
"aa_end": null,
"aa_length": 3538,
"cds_start": 10013,
"cds_end": null,
"cds_length": 10617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052900.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.9920T>C",
"hgvs_p": "p.Phe3307Ser",
"transcript": "NM_001363185.1",
"protein_id": "NP_001350114.1",
"transcript_support_level": null,
"aa_start": 3307,
"aa_end": null,
"aa_length": 3507,
"cds_start": 9920,
"cds_end": null,
"cds_length": 10524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363185.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10442T>C",
"hgvs_p": "p.Phe3481Ser",
"transcript": "XM_017013008.2",
"protein_id": "XP_016868497.1",
"transcript_support_level": null,
"aa_start": 3481,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10442,
"cds_end": null,
"cds_length": 11046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013008.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10310T>C",
"hgvs_p": "p.Phe3437Ser",
"transcript": "XM_017013009.3",
"protein_id": "XP_016868498.1",
"transcript_support_level": null,
"aa_start": 3437,
"aa_end": null,
"aa_length": 3637,
"cds_start": 10310,
"cds_end": null,
"cds_length": 10914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013009.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10232T>C",
"hgvs_p": "p.Phe3411Ser",
"transcript": "XM_047421314.1",
"protein_id": "XP_047277270.1",
"transcript_support_level": null,
"aa_start": 3411,
"aa_end": null,
"aa_length": 3611,
"cds_start": 10232,
"cds_end": null,
"cds_length": 10836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421314.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10208T>C",
"hgvs_p": "p.Phe3403Ser",
"transcript": "XM_011516816.3",
"protein_id": "XP_011515118.1",
"transcript_support_level": null,
"aa_start": 3403,
"aa_end": null,
"aa_length": 3603,
"cds_start": 10208,
"cds_end": null,
"cds_length": 10812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516816.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.10130T>C",
"hgvs_p": "p.Phe3377Ser",
"transcript": "XM_017013010.2",
"protein_id": "XP_016868499.1",
"transcript_support_level": null,
"aa_start": 3377,
"aa_end": null,
"aa_length": 3577,
"cds_start": 10130,
"cds_end": null,
"cds_length": 10734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013010.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.5918T>C",
"hgvs_p": "p.Phe1973Ser",
"transcript": "XM_011516815.3",
"protein_id": "XP_011515117.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5918,
"cds_end": null,
"cds_length": 6522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516815.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "n.1159T>C",
"hgvs_p": null,
"transcript": "ENST00000534172.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000534172.1"
}
],
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"dbsnp": "rs774419933",
"frequency_reference_population": 0.000004959149,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479096,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35180121660232544,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.4504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.513,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198123.2",
"gene_symbol": "CSMD3",
"hgnc_id": 19291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.10520T>C",
"hgvs_p": "p.Phe3507Ser"
}
],
"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
}