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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: 2-134953424-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=134953424&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 134953424,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_058241.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Gln323His",
"transcript": "NM_058241.3",
"protein_id": "NP_490595.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 730,
"cds_start": 969,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": "ENST00000264157.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058241.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Gln323His",
"transcript": "ENST00000264157.10",
"protein_id": "ENSP00000264157.5",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 730,
"cds_start": 969,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": "NM_058241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264157.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Gln323His",
"transcript": "ENST00000295238.11",
"protein_id": "ENSP00000295238.6",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 663,
"cds_start": 969,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295238.11"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.*853A>C",
"hgvs_p": null,
"transcript": "ENST00000419781.5",
"protein_id": "ENSP00000404653.1",
"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": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419781.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.*853A>C",
"hgvs_p": null,
"transcript": "ENST00000419781.5",
"protein_id": "ENSP00000404653.1",
"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": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419781.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.906A>C",
"hgvs_p": "p.Gln302His",
"transcript": "ENST00000922066.1",
"protein_id": "ENSP00000592125.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 709,
"cds_start": 906,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 6861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922066.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Gln323His",
"transcript": "NM_001241.4",
"protein_id": "NP_001232.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 663,
"cds_start": 969,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001241.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.537A>C",
"hgvs_p": "p.Gln179His",
"transcript": "NM_001320748.2",
"protein_id": "NP_001307677.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 586,
"cds_start": 537,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 7014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320748.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Gln148His",
"transcript": "NM_001320749.2",
"protein_id": "NP_001307678.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 555,
"cds_start": 444,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320749.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.906A>C",
"hgvs_p": "p.Gln302His",
"transcript": "XM_017005227.2",
"protein_id": "XP_016860716.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 709,
"cds_start": 906,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 6857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005227.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.906A>C",
"hgvs_p": "p.Gln302His",
"transcript": "XM_017005228.3",
"protein_id": "XP_016860717.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 642,
"cds_start": 906,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005228.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.537A>C",
"hgvs_p": "p.Gln179His",
"transcript": "XM_047446259.1",
"protein_id": "XP_047302215.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 586,
"cds_start": 537,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 6607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446259.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Gln148His",
"transcript": "XM_047446260.1",
"protein_id": "XP_047302216.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 555,
"cds_start": 444,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 9758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.279+156A>C",
"hgvs_p": null,
"transcript": "ENST00000452521.1",
"protein_id": "ENSP00000387436.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452521.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.*534A>C",
"hgvs_p": null,
"transcript": "ENST00000452839.5",
"protein_id": "ENSP00000400298.1",
"transcript_support_level": 2,
"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": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452839.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.1089A>C",
"hgvs_p": null,
"transcript": "NR_037649.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037649.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.1408A>C",
"hgvs_p": null,
"transcript": "NR_135468.2",
"protein_id": null,
"transcript_support_level": null,
"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": 7326,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "n.*534A>C",
"hgvs_p": null,
"transcript": "ENST00000452839.5",
"protein_id": "ENSP00000400298.1",
"transcript_support_level": 2,
"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": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.*99A>C",
"hgvs_p": null,
"transcript": "ENST00000446247.5",
"protein_id": "ENSP00000399497.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446247.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"hgvs_c": "c.*656A>C",
"hgvs_p": null,
"transcript": "ENST00000438691.1",
"protein_id": "ENSP00000415120.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438691.1"
}
],
"gene_symbol": "CCNT2",
"gene_hgnc_id": 1600,
"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": 0.08066341280937195,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.051,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_058241.3",
"gene_symbol": "CCNT2",
"hgnc_id": 1600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Gln323His"
}
],
"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
}