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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: 16-67652004-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67652004&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67652004,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000334583.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2672A>C",
"hgvs_p": "p.Gln891Pro",
"transcript": "NM_001013838.3",
"protein_id": "NP_001013860.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2672,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "ENST00000334583.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2672A>C",
"hgvs_p": "p.Gln891Pro",
"transcript": "ENST00000334583.11",
"protein_id": "ENSP00000334958.5",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2672,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": "NM_001013838.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2564A>C",
"hgvs_p": "p.Gln855Pro",
"transcript": "ENST00000545661.5",
"protein_id": "ENSP00000441481.1",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2579A>C",
"hgvs_p": "p.Gln860Pro",
"transcript": "ENST00000696175.1",
"protein_id": "ENSP00000512465.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2564A>C",
"hgvs_p": "p.Gln855Pro",
"transcript": "NM_001438835.1",
"protein_id": "NP_001425764.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2579A>C",
"hgvs_p": "p.Gln860Pro",
"transcript": "ENST00000696176.1",
"protein_id": "ENSP00000512466.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2564A>C",
"hgvs_p": "p.Gln855Pro",
"transcript": "NM_001438244.1",
"protein_id": "NP_001425173.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1388,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2564A>C",
"hgvs_p": "p.Gln855Pro",
"transcript": "NM_001317026.3",
"protein_id": "NP_001303955.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2579A>C",
"hgvs_p": "p.Gln860Pro",
"transcript": "XM_011522875.3",
"protein_id": "XP_011521177.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2564A>C",
"hgvs_p": "p.Gln855Pro",
"transcript": "XM_047433644.1",
"protein_id": "XP_047289600.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1405,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2579A>C",
"hgvs_p": "p.Gln860Pro",
"transcript": "XM_017022953.2",
"protein_id": "XP_016878442.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "c.2579A>C",
"hgvs_p": "p.Gln860Pro",
"transcript": "XM_011522874.2",
"protein_id": "XP_011521176.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1377,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "n.3905A>C",
"hgvs_p": null,
"transcript": "ENST00000602321.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "n.884A>C",
"hgvs_p": null,
"transcript": "ENST00000602633.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"hgvs_c": "n.119A>C",
"hgvs_p": null,
"transcript": "ENST00000602931.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CARMIL2",
"gene_hgnc_id": 27089,
"dbsnp": "rs769736838",
"frequency_reference_population": 0.00007313983,
"hom_count_reference_population": 0,
"allele_count_reference_population": 118,
"gnomad_exomes_af": 0.0000773369,
"gnomad_genomes_af": 0.0000328498,
"gnomad_exomes_ac": 113,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.041623443365097046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.3997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.243,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "ENST00000334583.11",
"gene_symbol": "CARMIL2",
"hgnc_id": 27089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2672A>C",
"hgvs_p": "p.Gln891Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}