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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: 2-219004022-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219004022&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219004022,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_194302.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5485C>G",
"hgvs_p": "p.Gln1829Glu",
"transcript": "NM_194302.4",
"protein_id": "NP_919278.2",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 5562,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": "ENST00000341552.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194302.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5485C>G",
"hgvs_p": "p.Gln1829Glu",
"transcript": "ENST00000341552.10",
"protein_id": "ENSP00000340776.5",
"transcript_support_level": 5,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 5562,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": "NM_194302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341552.10"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5485C>G",
"hgvs_p": "p.Gln1829Glu",
"transcript": "ENST00000453220.5",
"protein_id": "ENSP00000409117.1",
"transcript_support_level": 5,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 5494,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453220.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5533C>G",
"hgvs_p": "p.Gln1845Glu",
"transcript": "XM_011510903.2",
"protein_id": "XP_011509205.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 1941,
"cds_start": 5533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 5726,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510903.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5533C>G",
"hgvs_p": "p.Gln1845Glu",
"transcript": "XM_011510904.3",
"protein_id": "XP_011509206.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 1941,
"cds_start": 5533,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 5696,
"cdna_end": null,
"cdna_length": 6080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510904.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5530C>G",
"hgvs_p": "p.Gln1844Glu",
"transcript": "XM_011510908.2",
"protein_id": "XP_011509210.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 5642,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510908.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5530C>G",
"hgvs_p": "p.Gln1844Glu",
"transcript": "XM_011510909.2",
"protein_id": "XP_011509211.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 5672,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510909.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5530C>G",
"hgvs_p": "p.Gln1844Glu",
"transcript": "XM_017003752.2",
"protein_id": "XP_016859241.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 5793,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003752.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5530C>G",
"hgvs_p": "p.Gln1844Glu",
"transcript": "XM_047443873.1",
"protein_id": "XP_047299829.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 6190,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443873.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5497C>G",
"hgvs_p": "p.Gln1833Glu",
"transcript": "XM_017003753.2",
"protein_id": "XP_016859242.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1929,
"cds_start": 5497,
"cds_end": null,
"cds_length": 5790,
"cdna_start": 5536,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003753.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5488C>G",
"hgvs_p": "p.Gln1830Glu",
"transcript": "XM_011510910.2",
"protein_id": "XP_011509212.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1926,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5781,
"cdna_start": 5681,
"cdna_end": null,
"cdna_length": 6065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510910.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5335C>G",
"hgvs_p": "p.Gln1779Glu",
"transcript": "XM_011510911.2",
"protein_id": "XP_011509213.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5566,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510911.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5335C>G",
"hgvs_p": "p.Gln1779Glu",
"transcript": "XM_011510912.2",
"protein_id": "XP_011509214.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5620,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510912.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5335C>G",
"hgvs_p": "p.Gln1779Glu",
"transcript": "XM_011510914.2",
"protein_id": "XP_011509216.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5517,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510914.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5335C>G",
"hgvs_p": "p.Gln1779Glu",
"transcript": "XM_011510915.2",
"protein_id": "XP_011509217.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5487,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510915.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5335C>G",
"hgvs_p": "p.Gln1779Glu",
"transcript": "XM_017003754.2",
"protein_id": "XP_016859243.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5571,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003754.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"hgvs_c": "c.5254C>G",
"hgvs_p": "p.Gln1752Glu",
"transcript": "XM_011510916.2",
"protein_id": "XP_011509218.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5254,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 5447,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510916.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000224090",
"gene_hgnc_id": 58353,
"hgvs_c": "n.86+1722G>C",
"hgvs_p": null,
"transcript": "ENST00000441450.1",
"protein_id": null,
"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": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFAP65-AS1",
"gene_hgnc_id": 58353,
"hgvs_c": "n.86+1722G>C",
"hgvs_p": null,
"transcript": "NR_046086.1",
"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": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046086.1"
}
],
"gene_symbol": "CFAP65",
"gene_hgnc_id": 25325,
"dbsnp": "rs535436534",
"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": 0.04608571529388428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.481,
"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": -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": "NM_194302.4",
"gene_symbol": "CFAP65",
"hgnc_id": 25325,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5485C>G",
"hgvs_p": "p.Gln1829Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000441450.1",
"gene_symbol": "ENSG00000224090",
"hgnc_id": 58353,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.86+1722G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_046086.1",
"gene_symbol": "CFAP65-AS1",
"hgnc_id": 58353,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.86+1722G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}