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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: 6-31948042-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31948042&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31948042,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000425368.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Phe286Phe",
"transcript": "NM_001710.6",
"protein_id": "NP_001701.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 764,
"cds_start": 858,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "ENST00000425368.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Phe286Phe",
"transcript": "ENST00000425368.7",
"protein_id": "ENSP00000416561.2",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 764,
"cds_start": 858,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "NM_001710.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Phe788Phe",
"transcript": "ENST00000456570.5",
"protein_id": "ENSP00000410815.1",
"transcript_support_level": 2,
"aa_start": 788,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2364,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.1911C>T",
"hgvs_p": "p.Phe637Phe",
"transcript": "ENST00000477310.1",
"protein_id": "ENSP00000418996.1",
"transcript_support_level": 5,
"aa_start": 637,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1911,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Phe286Phe",
"transcript": "ENST00000483004.2",
"protein_id": "ENSP00000419887.2",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 692,
"cds_start": 858,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Phe286Phe",
"transcript": "ENST00000698628.1",
"protein_id": "ENSP00000513848.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 687,
"cds_start": 858,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2246,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1035C>T",
"hgvs_p": null,
"transcript": "ENST00000452035.7",
"protein_id": null,
"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": 2769,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.441C>T",
"hgvs_p": null,
"transcript": "ENST00000461483.5",
"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": 1277,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.858C>T",
"hgvs_p": null,
"transcript": "ENST00000497841.6",
"protein_id": "ENSP00000513847.1",
"transcript_support_level": 3,
"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": 1688,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1035C>T",
"hgvs_p": null,
"transcript": "ENST00000698629.1",
"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": 2554,
"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": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1574C>T",
"hgvs_p": null,
"transcript": "ENST00000698630.1",
"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": 3036,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1414C>T",
"hgvs_p": null,
"transcript": "ENST00000698631.1",
"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": 3024,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1862C>T",
"hgvs_p": null,
"transcript": "ENST00000698632.1",
"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": 4139,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1677C>T",
"hgvs_p": null,
"transcript": "ENST00000698633.1",
"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": 4010,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.1080C>T",
"hgvs_p": null,
"transcript": "ENST00000698636.1",
"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": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.*484C>T",
"hgvs_p": null,
"transcript": "ENST00000460718.5",
"protein_id": "ENSP00000417793.1",
"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": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"dbsnp": "rs117905900",
"frequency_reference_population": 0.002591399,
"hom_count_reference_population": 132,
"allele_count_reference_population": 4183,
"gnomad_exomes_af": 0.0025378,
"gnomad_genomes_af": 0.00310588,
"gnomad_exomes_ac": 3710,
"gnomad_genomes_ac": 473,
"gnomad_exomes_homalt": 125,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.962,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000425368.7",
"gene_symbol": "CFB",
"hgnc_id": 1037,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Phe286Phe"
},
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000456570.5",
"gene_symbol": "ENSG00000244255",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Phe788Phe"
}
],
"clinvar_disease": "Atypical hemolytic-uremic syndrome,Atypical hemolytic-uremic syndrome with B factor anomaly,Complement component 2 deficiency,Macular degeneration,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:4",
"phenotype_combined": "Atypical hemolytic-uremic syndrome|Macular degeneration|Complement component 2 deficiency|not provided|Atypical hemolytic-uremic syndrome with B factor anomaly|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}