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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: 16-21258841-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21258841&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21258841,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001888.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile",
"transcript": "NM_001376256.1",
"protein_id": "NP_001363185.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 885,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000572914.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376256.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile",
"transcript": "ENST00000572914.2",
"protein_id": "ENSP00000461904.2",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 885,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376256.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572914.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile",
"transcript": "ENST00000219599.8",
"protein_id": "ENSP00000219599.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 885,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219599.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.*520+2413G>T",
"hgvs_p": null,
"transcript": "ENST00000574448.5",
"protein_id": "ENSP00000459982.1",
"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": "ENST00000574448.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.951G>T",
"hgvs_p": "p.Met317Ile",
"transcript": "ENST00000903146.1",
"protein_id": "ENSP00000573205.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 336,
"cds_start": 951,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903146.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile",
"transcript": "NM_001888.5",
"protein_id": "NP_001879.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 885,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001888.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile",
"transcript": "ENST00000543948.5",
"protein_id": "ENSP00000440227.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 885,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543948.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Met286Ile",
"transcript": "ENST00000903145.1",
"protein_id": "ENSP00000573204.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 305,
"cds_start": 858,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903145.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.798G>T",
"hgvs_p": "p.Met266Ile",
"transcript": "ENST00000903144.1",
"protein_id": "ENSP00000573203.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 285,
"cds_start": 798,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903144.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.783G>T",
"hgvs_p": "p.Met261Ile",
"transcript": "ENST00000934988.1",
"protein_id": "ENSP00000605047.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 280,
"cds_start": 783,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934988.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.579G>T",
"hgvs_p": "p.Met193Ile",
"transcript": "ENST00000934987.1",
"protein_id": "ENSP00000605046.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 212,
"cds_start": 579,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934987.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.210G>T",
"hgvs_p": "p.Met70Ile",
"transcript": "ENST00000570401.5",
"protein_id": "ENSP00000460820.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 96,
"cds_start": 210,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570401.5"
}
],
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"dbsnp": "rs533525035",
"frequency_reference_population": 0.000005472855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547285,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49940794706344604,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7313,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.284,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001888.5",
"gene_symbol": "CRYM",
"hgnc_id": 2418,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Met295Ile"
}
],
"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
}