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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: 10-68749624-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68749624&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68749624,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265872.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "NM_018237.4",
"protein_id": "NP_060707.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1057,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": "ENST00000265872.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "ENST00000265872.11",
"protein_id": "ENSP00000265872.6",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1057,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": "NM_018237.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327Trp",
"transcript": "ENST00000543225.5",
"protein_id": "ENSP00000438610.1",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 771,
"cds_start": 979,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000536012.5",
"protein_id": "ENSP00000439642.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 645,
"cds_start": 472,
"cds_end": null,
"cds_length": 1939,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2447,
"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": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "n.1057C>T",
"hgvs_p": null,
"transcript": "ENST00000540210.5",
"protein_id": "ENSP00000437760.1",
"transcript_support_level": 1,
"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": 3415,
"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": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "n.1057C>T",
"hgvs_p": null,
"transcript": "ENST00000541012.5",
"protein_id": "ENSP00000439153.1",
"transcript_support_level": 1,
"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": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
"transcript": "NM_001282959.2",
"protein_id": "NP_001269888.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
"transcript": "NM_001282960.2",
"protein_id": "NP_001269889.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
"transcript": "ENST00000543719.5",
"protein_id": "ENSP00000445254.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
"transcript": "ENST00000539539.5",
"protein_id": "ENSP00000439252.1",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3130,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "ENST00000630771.2",
"protein_id": "ENSP00000486408.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 568,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4540,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "n.*672C>T",
"hgvs_p": null,
"transcript": "ENST00000543229.5",
"protein_id": "ENSP00000439571.1",
"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": 2475,
"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": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "n.1157C>T",
"hgvs_p": null,
"transcript": "NR_104262.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"hgvs_c": "n.*672C>T",
"hgvs_p": null,
"transcript": "ENST00000543229.5",
"protein_id": "ENSP00000439571.1",
"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": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCAR1",
"gene_hgnc_id": 24236,
"dbsnp": "rs143403057",
"frequency_reference_population": 0.000054527045,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000588342,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31146517395973206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.9733,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.713,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000265872.11",
"gene_symbol": "CCAR1",
"hgnc_id": 24236,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}