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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: 9-135817985-GGG-TGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135817985&ref=GGG&alt=TGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CAMSAP1",
"hgnc_id": 19946,
"hgvs_c": "c.4294_4296delCCCinsACA",
"hgvs_p": "p.Pro1432Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001437279.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1602,
"aa_ref": "P",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8018,
"cdna_start": 4650,
"cds_end": null,
"cds_length": 4809,
"cds_start": 4261,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015447.4",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.4261_4263delCCCinsACA",
"hgvs_p": "p.Pro1421Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389532.9",
"protein_coding": true,
"protein_id": "NP_056262.3",
"strand": false,
"transcript": "NM_015447.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1602,
"aa_ref": "P",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8018,
"cdna_start": 4650,
"cds_end": null,
"cds_length": 4809,
"cds_start": 4261,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389532.9",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.4261_4263delCCCinsACA",
"hgvs_p": "p.Pro1421Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015447.4",
"protein_coding": true,
"protein_id": "ENSP00000374183.4",
"strand": false,
"transcript": "ENST00000389532.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "P",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 3780,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000312405.10",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3427_3429delCCCinsACA",
"hgvs_p": "p.Pro1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312463.6",
"strand": false,
"transcript": "ENST00000312405.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "P",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8051,
"cdna_start": 4683,
"cds_end": null,
"cds_length": 4842,
"cds_start": 4294,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437279.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.4294_4296delCCCinsACA",
"hgvs_p": "p.Pro1432Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424208.1",
"strand": false,
"transcript": "NM_001437279.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "P",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 4365,
"cds_end": null,
"cds_length": 4842,
"cds_start": 4294,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409386.3",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.4294_4296delCCCinsACA",
"hgvs_p": "p.Pro1432Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386420.3",
"strand": false,
"transcript": "ENST00000409386.3",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "P",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7755,
"cdna_start": 4387,
"cds_end": null,
"cds_length": 4377,
"cds_start": 3829,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437280.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3829_3831delCCCinsACA",
"hgvs_p": "p.Pro1277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424209.1",
"strand": false,
"transcript": "NM_001437280.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "P",
"aa_start": 1222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7593,
"cdna_start": 4225,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3664,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437281.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3664_3666delCCCinsACA",
"hgvs_p": "p.Pro1222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424210.1",
"strand": false,
"transcript": "NM_001437281.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "P",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7876,
"cdna_start": 4508,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411031.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3427_3429delCCCinsACA",
"hgvs_p": "p.Pro1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397960.1",
"strand": false,
"transcript": "NM_001411031.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7788,
"cdna_start": 4420,
"cds_end": null,
"cds_length": 4410,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011518272.2",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3862_3864delCCCinsACA",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516574.1",
"strand": false,
"transcript": "XM_011518272.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7912,
"cdna_start": 4544,
"cds_end": null,
"cds_length": 4410,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017014301.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3862_3864delCCCinsACA",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869790.1",
"strand": false,
"transcript": "XM_017014301.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7836,
"cdna_start": 4468,
"cds_end": null,
"cds_length": 4410,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017014302.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3862_3864delCCCinsACA",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869791.1",
"strand": false,
"transcript": "XM_017014302.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "P",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7626,
"cdna_start": 4258,
"cds_end": null,
"cds_length": 4245,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011518273.3",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "c.3697_3699delCCCinsACA",
"hgvs_p": "p.Pro1233Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516575.1",
"strand": false,
"transcript": "XM_011518273.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482664.5",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "n.333_335delCCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482664.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000483991.5",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "n.3323_3325delCCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483991.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000487868.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "n.185_187delCCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487868.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000493088.1",
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"hgvs_c": "n.359_361delCCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000493088.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19946,
"gene_symbol": "CAMSAP1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Uncertain_significance",
"phylop100way_score": 6.769,
"pos": 135817985,
"ref": "GGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001437279.1"
}
]
}