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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: 4-69944943-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69944943&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69944943,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001890.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "NM_001890.2",
"protein_id": "NP_001881.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 185,
"cds_start": 496,
"cds_end": null,
"cds_length": 558,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "ENST00000246891.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000246891.9",
"protein_id": "ENSP00000246891.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 185,
"cds_start": 496,
"cds_end": null,
"cds_length": 558,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "NM_001890.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Asp158His",
"transcript": "ENST00000507772.5",
"protein_id": "ENSP00000427490.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 177,
"cds_start": 472,
"cds_end": null,
"cds_length": 534,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Asp157His",
"transcript": "NM_001025104.2",
"protein_id": "NP_001020275.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 176,
"cds_start": 469,
"cds_end": null,
"cds_length": 531,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Asp157His",
"transcript": "ENST00000507763.5",
"protein_id": "ENSP00000422611.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 176,
"cds_start": 469,
"cds_end": null,
"cds_length": 531,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Asp150His",
"transcript": "ENST00000505782.5",
"protein_id": "ENSP00000426684.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 169,
"cds_start": 448,
"cds_end": null,
"cds_length": 510,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.169G>C",
"hgvs_p": "p.Asp57His",
"transcript": "ENST00000510936.1",
"protein_id": "ENSP00000421314.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 76,
"cds_start": 169,
"cds_end": null,
"cds_length": 231,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.493G>C",
"hgvs_p": "p.Asp165His",
"transcript": "XM_006714089.3",
"protein_id": "XP_006714152.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 184,
"cds_start": 493,
"cds_end": null,
"cds_length": 555,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Asp158His",
"transcript": "XM_006714090.3",
"protein_id": "XP_006714153.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 177,
"cds_start": 472,
"cds_end": null,
"cds_length": 534,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Asp157His",
"transcript": "XM_006714091.3",
"protein_id": "XP_006714154.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 176,
"cds_start": 469,
"cds_end": null,
"cds_length": 531,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"dbsnp": "rs149927680",
"frequency_reference_population": 0.00043220786,
"hom_count_reference_population": 6,
"allele_count_reference_population": 697,
"gnomad_exomes_af": 0.000250549,
"gnomad_genomes_af": 0.00217964,
"gnomad_exomes_ac": 366,
"gnomad_genomes_ac": 331,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005793839693069458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.3508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.274,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001890.2",
"gene_symbol": "CSN1S1",
"hgnc_id": 2445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}