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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: 4-69939191-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69939191&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69939191,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001890.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Ile87Val",
"transcript": "NM_001890.2",
"protein_id": "NP_001881.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 185,
"cds_start": 259,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246891.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001890.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Ile87Val",
"transcript": "ENST00000246891.9",
"protein_id": "ENSP00000246891.4",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 185,
"cds_start": 259,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001890.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246891.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "ENST00000949200.1",
"protein_id": "ENSP00000619259.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 184,
"cds_start": 256,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949200.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Ile87Val",
"transcript": "ENST00000507772.5",
"protein_id": "ENSP00000427490.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 177,
"cds_start": 259,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507772.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "NM_001025104.2",
"protein_id": "NP_001020275.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 176,
"cds_start": 256,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025104.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "ENST00000507763.5",
"protein_id": "ENSP00000422611.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 176,
"cds_start": 256,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507763.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.235A>G",
"hgvs_p": "p.Ile79Val",
"transcript": "ENST00000505782.5",
"protein_id": "ENSP00000426684.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 169,
"cds_start": 235,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505782.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Ile87Val",
"transcript": "ENST00000949201.1",
"protein_id": "ENSP00000619260.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 163,
"cds_start": 259,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949201.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Ile6Val",
"transcript": "ENST00000510936.1",
"protein_id": "ENSP00000421314.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 76,
"cds_start": 16,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510936.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000633258.1",
"protein_id": "ENSP00000487633.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 54,
"cds_start": 82,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633258.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"transcript": "XM_006714089.3",
"protein_id": "XP_006714152.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 184,
"cds_start": 256,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714089.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.235A>G",
"hgvs_p": "p.Ile79Val",
"transcript": "XM_006714090.3",
"protein_id": "XP_006714153.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 177,
"cds_start": 235,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714090.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "XM_006714091.3",
"protein_id": "XP_006714154.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 176,
"cds_start": 232,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714091.3"
}
],
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"dbsnp": "rs200177207",
"frequency_reference_population": 0.00047492282,
"hom_count_reference_population": 0,
"allele_count_reference_population": 760,
"gnomad_exomes_af": 0.00048606,
"gnomad_genomes_af": 0.000368712,
"gnomad_exomes_ac": 704,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03485691547393799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.67,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001890.2",
"gene_symbol": "CSN1S1",
"hgnc_id": 2445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Ile87Val"
}
],
"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
}