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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: 9-134910018-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=134910018&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 134910018,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002003.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Asn254Ser",
"transcript": "NM_002003.5",
"protein_id": "NP_001994.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 326,
"cds_start": 761,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371806.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002003.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Asn254Ser",
"transcript": "ENST00000371806.4",
"protein_id": "ENSP00000360871.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 326,
"cds_start": 761,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002003.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371806.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Asn253Ser",
"transcript": "ENST00000954365.1",
"protein_id": "ENSP00000624424.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 325,
"cds_start": 758,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954365.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Asn253Ser",
"transcript": "ENST00000954366.1",
"protein_id": "ENSP00000624425.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 325,
"cds_start": 758,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954366.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Asn242Ser",
"transcript": "ENST00000867924.1",
"protein_id": "ENSP00000537983.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 314,
"cds_start": 725,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867924.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asn236Ser",
"transcript": "ENST00000867923.1",
"protein_id": "ENSP00000537982.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 308,
"cds_start": 707,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867923.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Asn224Ser",
"transcript": "ENST00000867921.1",
"protein_id": "ENSP00000537980.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 296,
"cds_start": 671,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"hgvs_c": "c.734-18A>G",
"hgvs_p": null,
"transcript": "ENST00000867922.1",
"protein_id": "ENSP00000537981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867922.1"
}
],
"gene_symbol": "FCN1",
"gene_hgnc_id": 3623,
"dbsnp": "rs770120283",
"frequency_reference_population": 0.00002726278,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000294147,
"gnomad_genomes_af": 0.00000657592,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014715194702148438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0806,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.554,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_002003.5",
"gene_symbol": "FCN1",
"hgnc_id": 3623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Asn254Ser"
}
],
"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
}