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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: 11-71463507-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71463507&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71463507,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_018161.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "NM_018161.5",
"protein_id": "NP_060631.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319023.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018161.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000319023.7",
"protein_id": "ENSP00000326424.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018161.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319023.7"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "n.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000528509.5",
"protein_id": "ENSP00000433472.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000528509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000859578.1",
"protein_id": "ENSP00000529637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000935796.1",
"protein_id": "ENSP00000605855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000935795.1",
"protein_id": "ENSP00000605854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000935794.1",
"protein_id": "ENSP00000605853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": null,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000859579.1",
"protein_id": "ENSP00000529638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000859581.1",
"protein_id": "ENSP00000529640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "c.317+22C>G",
"hgvs_p": null,
"transcript": "ENST00000859580.1",
"protein_id": "ENSP00000529639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859580.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "n.383+22C>G",
"hgvs_p": null,
"transcript": "ENST00000524949.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000524949.5"
},
{
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "n.215+22C>G",
"hgvs_p": null,
"transcript": "ENST00000525200.5",
"protein_id": "ENSP00000432129.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000525200.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "n.*62+22C>G",
"hgvs_p": null,
"transcript": "ENST00000529120.5",
"protein_id": "ENSP00000437220.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000529120.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"hgvs_c": "n.383+22C>G",
"hgvs_p": null,
"transcript": "ENST00000533769.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000533769.5"
}
],
"gene_symbol": "NADSYN1",
"gene_hgnc_id": 29832,
"dbsnp": "rs1629220",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.139,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018161.5",
"gene_symbol": "NADSYN1",
"hgnc_id": 29832,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.317+22C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}