← Back to variant description
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: 19-13927918-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13927918&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13927918,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000318003.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2342G>T",
"hgvs_p": "p.Gly781Val",
"transcript": "NM_017721.5",
"protein_id": "NP_060191.3",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 951,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "ENST00000318003.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2342G>T",
"hgvs_p": "p.Gly781Val",
"transcript": "ENST00000318003.11",
"protein_id": "ENSP00000313601.6",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 951,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "NM_017721.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2342G>T",
"hgvs_p": "p.Gly781Val",
"transcript": "ENST00000589606.5",
"protein_id": "ENSP00000467526.1",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 950,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3117,
"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": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.*609G>T",
"hgvs_p": null,
"transcript": "ENST00000586955.5",
"protein_id": "ENSP00000465376.1",
"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": 2743,
"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": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.*609G>T",
"hgvs_p": null,
"transcript": "ENST00000586955.5",
"protein_id": "ENSP00000465376.1",
"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": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2342G>T",
"hgvs_p": "p.Gly781Val",
"transcript": "NM_001411138.1",
"protein_id": "NP_001398067.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 950,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Gly366Val",
"transcript": "ENST00000680977.1",
"protein_id": "ENSP00000506358.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 567,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val",
"transcript": "ENST00000587508.1",
"protein_id": "ENSP00000466586.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 404,
"cds_start": 704,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Gly780Val",
"transcript": "XM_047439012.1",
"protein_id": "XP_047294968.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 950,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Gly780Val",
"transcript": "XM_047439014.1",
"protein_id": "XP_047294970.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 949,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2330G>T",
"hgvs_p": "p.Gly777Val",
"transcript": "XM_047439015.1",
"protein_id": "XP_047294971.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 947,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2327G>T",
"hgvs_p": "p.Gly776Val",
"transcript": "XM_047439016.1",
"protein_id": "XP_047294972.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 946,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2330G>T",
"hgvs_p": "p.Gly777Val",
"transcript": "XM_047439017.1",
"protein_id": "XP_047294973.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 946,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.2327G>T",
"hgvs_p": "p.Gly776Val",
"transcript": "XM_047439018.1",
"protein_id": "XP_047294974.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 945,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Gly401Val",
"transcript": "XM_047439019.1",
"protein_id": "XP_047294975.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 571,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "c.1034G>T",
"hgvs_p": "p.Gly345Val",
"transcript": "XM_047439020.1",
"protein_id": "XP_047294976.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 515,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2285,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.2190G>T",
"hgvs_p": null,
"transcript": "ENST00000589138.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2435,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.1766G>T",
"hgvs_p": null,
"transcript": "ENST00000679637.1",
"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": 2759,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.1041G>T",
"hgvs_p": null,
"transcript": "ENST00000679937.1",
"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": 1972,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.1266G>T",
"hgvs_p": null,
"transcript": "ENST00000681428.1",
"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": 2045,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"hgvs_c": "n.1196G>T",
"hgvs_p": null,
"transcript": "ENST00000681846.1",
"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": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CC2D1A",
"gene_hgnc_id": 30237,
"dbsnp": "rs77389229",
"frequency_reference_population": 0.00037617143,
"hom_count_reference_population": 2,
"allele_count_reference_population": 607,
"gnomad_exomes_af": 0.000366093,
"gnomad_genomes_af": 0.000472906,
"gnomad_exomes_ac": 535,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016271233558654785,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.601,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8133,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.851,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 13,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000318003.11",
"gene_symbol": "CC2D1A",
"hgnc_id": 30237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2342G>T",
"hgvs_p": "p.Gly781Val"
}
],
"clinvar_disease": "CC2D1A-related disorder,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided|Inborn genetic diseases|CC2D1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}