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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: 1-196888191-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196888191&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196888191,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001201550.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "NM_001201550.3",
"protein_id": "NP_001188479.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 578,
"cds_start": 41,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000608469.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201550.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000608469.6",
"protein_id": "ENSP00000477162.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 578,
"cds_start": 41,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201550.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608469.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000251424.8",
"protein_id": "ENSP00000251424.4",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 331,
"cds_start": 41,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251424.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "NM_001201551.2",
"protein_id": "NP_001188480.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 577,
"cds_start": 41,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201551.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000367416.6",
"protein_id": "ENSP00000356386.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 577,
"cds_start": 41,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367416.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883274.1",
"protein_id": "ENSP00000553333.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 570,
"cds_start": 41,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883274.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883276.1",
"protein_id": "ENSP00000553335.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 533,
"cds_start": 41,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883276.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883277.1",
"protein_id": "ENSP00000553336.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 517,
"cds_start": 41,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883277.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883279.1",
"protein_id": "ENSP00000553338.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 512,
"cds_start": 41,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883279.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883275.1",
"protein_id": "ENSP00000553334.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 509,
"cds_start": 41,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883275.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "NM_006684.5",
"protein_id": "NP_006675.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 331,
"cds_start": 41,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006684.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "ENST00000883278.1",
"protein_id": "ENSP00000553337.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 323,
"cds_start": 41,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883278.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "XM_047440639.1",
"protein_id": "XP_047296595.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 570,
"cds_start": 41,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440639.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "XM_017000111.2",
"protein_id": "XP_016855600.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 519,
"cds_start": 41,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000111.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "XM_047440640.1",
"protein_id": "XP_047296596.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 519,
"cds_start": 41,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440640.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "XM_047440659.1",
"protein_id": "XP_047296615.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 468,
"cds_start": 41,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440659.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"transcript": "XM_017000113.2",
"protein_id": "XP_016855602.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 458,
"cds_start": 41,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000113.2"
}
],
"gene_symbol": "CFHR4",
"gene_hgnc_id": 16979,
"dbsnp": "rs370026617",
"frequency_reference_population": 6.850094e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85009e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18007004261016846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.14,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.053,
"phylop100way_prediction": "Benign",
"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": 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_001201550.3",
"gene_symbol": "CFHR4",
"hgnc_id": 16979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Digenic",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}