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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: 22-19524135-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19524135&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19524135,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003277.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Met",
"transcript": "NM_001363066.2",
"protein_id": "NP_001349995.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 218,
"cds_start": 121,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618236.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363066.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Met",
"transcript": "ENST00000618236.2",
"protein_id": "ENSP00000480623.1",
"transcript_support_level": 6,
"aa_start": 41,
"aa_end": null,
"aa_length": 218,
"cds_start": 121,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363066.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618236.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "NM_001130861.1",
"protein_id": "NP_001124333.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130861.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "NM_001363067.2",
"protein_id": "NP_001349996.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363067.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "NM_003277.4",
"protein_id": "NP_003268.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003277.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000403084.1",
"protein_id": "ENSP00000384554.1",
"transcript_support_level": 6,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403084.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000406028.1",
"protein_id": "ENSP00000385477.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406028.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000413119.2",
"protein_id": "ENSP00000400612.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 303,
"cds_start": 376,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413119.2"
}
],
"gene_symbol": "CLDN5",
"gene_hgnc_id": 2047,
"dbsnp": null,
"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": 0.9043086767196655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.774,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.763,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_003277.4",
"gene_symbol": "CLDN5",
"hgnc_id": 2047,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met"
}
],
"clinvar_disease": "Neurodevelopmental disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided|Neurodevelopmental disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}