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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: 19-4153755-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4153755&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4153755,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032607.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "NM_032607.3",
"protein_id": "NP_115996.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 461,
"cds_start": 8,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000078445.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032607.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000078445.7",
"protein_id": "ENSP00000078445.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 461,
"cds_start": 8,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000078445.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000595923.5",
"protein_id": "ENSP00000469355.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 460,
"cds_start": 8,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595923.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000602257.5",
"protein_id": "ENSP00000472399.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 459,
"cds_start": 8,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602257.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000602147.1",
"protein_id": "ENSP00000470119.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 337,
"cds_start": 8,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602147.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000961096.1",
"protein_id": "ENSP00000631155.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 494,
"cds_start": 8,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961096.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "NM_001271995.2",
"protein_id": "NP_001258924.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 460,
"cds_start": 8,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271995.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "NM_001271996.2",
"protein_id": "NP_001258925.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 459,
"cds_start": 8,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271996.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000961095.1",
"protein_id": "ENSP00000631154.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 458,
"cds_start": 8,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961095.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909764.1",
"protein_id": "ENSP00000579823.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 441,
"cds_start": 8,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909764.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909766.1",
"protein_id": "ENSP00000579825.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 438,
"cds_start": 8,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909766.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909763.1",
"protein_id": "ENSP00000579822.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 437,
"cds_start": 8,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909763.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909767.1",
"protein_id": "ENSP00000579826.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 415,
"cds_start": 8,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909767.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909765.1",
"protein_id": "ENSP00000579824.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 414,
"cds_start": 8,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909765.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "NM_001271997.2",
"protein_id": "NP_001258926.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 337,
"cds_start": 8,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271997.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met",
"transcript": "ENST00000909762.1",
"protein_id": "ENSP00000579821.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 321,
"cds_start": 8,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909762.1"
}
],
"gene_symbol": "CREB3L3",
"gene_hgnc_id": 18855,
"dbsnp": "rs775663071",
"frequency_reference_population": 0.000027882388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.000027363,
"gnomad_genomes_af": 0.0000328744,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027923554182052612,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.667,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_032607.3",
"gene_symbol": "CREB3L3",
"hgnc_id": 18855,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Thr3Met"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}