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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: 19-7608154-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7608154&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CAMSAP3",
"hgnc_id": 29307,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001080429.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1947,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4797060489654541,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 790,
"cds_end": null,
"cds_length": 3750,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020902.2",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000160298.9",
"protein_coding": true,
"protein_id": "NP_065953.1",
"strand": true,
"transcript": "NM_020902.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 790,
"cds_end": null,
"cds_length": 3750,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000160298.9",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020902.2",
"protein_coding": true,
"protein_id": "ENSP00000160298.3",
"strand": true,
"transcript": "ENST00000160298.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 832,
"cds_end": null,
"cds_length": 3831,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000446248.4",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416797.1",
"strand": true,
"transcript": "ENST00000446248.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 871,
"cds_end": null,
"cds_length": 3831,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001080429.3",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073898.1",
"strand": true,
"transcript": "NM_001080429.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 767,
"cds_end": null,
"cds_length": 3819,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930508.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600567.1",
"strand": true,
"transcript": "ENST00000930508.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "A",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4182,
"cdna_start": 835,
"cds_end": null,
"cds_length": 3819,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930509.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600568.1",
"strand": true,
"transcript": "ENST00000930509.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 827,
"cds_end": null,
"cds_length": 3798,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867870.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Ala233Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537929.1",
"strand": true,
"transcript": "ENST00000867870.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "A",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 785,
"cds_end": null,
"cds_length": 3783,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867871.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537930.1",
"strand": true,
"transcript": "ENST00000867871.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 857,
"cds_end": null,
"cds_length": 3780,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930507.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600566.1",
"strand": true,
"transcript": "ENST00000930507.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 875,
"cds_end": null,
"cds_length": 3747,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930505.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Ala233Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600564.1",
"strand": true,
"transcript": "ENST00000930505.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 807,
"cds_end": null,
"cds_length": 3732,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930506.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600565.1",
"strand": true,
"transcript": "ENST00000930506.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 752,
"cds_end": null,
"cds_length": 3699,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867872.1",
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537931.1",
"strand": true,
"transcript": "ENST00000867872.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs372713856",
"effect": "missense_variant",
"frequency_reference_population": 0.0000062045287,
"gene_hgnc_id": 29307,
"gene_symbol": "CAMSAP3",
"gnomad_exomes_ac": 8,
"gnomad_exomes_af": 0.00000548114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131427,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.227,
"pos": 7608154,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.13,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001080429.3"
}
]
}