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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: 9-135811591-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135811591&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135811591,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001437279.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4527C>G",
"hgvs_p": "p.Ala1509Ala",
"transcript": "NM_015447.4",
"protein_id": "NP_056262.3",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4527,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389532.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015447.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4527C>G",
"hgvs_p": "p.Ala1509Ala",
"transcript": "ENST00000389532.9",
"protein_id": "ENSP00000374183.4",
"transcript_support_level": 5,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4527,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015447.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389532.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.3693C>G",
"hgvs_p": "p.Ala1231Ala",
"transcript": "ENST00000312405.10",
"protein_id": "ENSP00000312463.6",
"transcript_support_level": 1,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312405.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4560C>G",
"hgvs_p": "p.Ala1520Ala",
"transcript": "NM_001437279.1",
"protein_id": "NP_001424208.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4560,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437279.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4560C>G",
"hgvs_p": "p.Ala1520Ala",
"transcript": "ENST00000409386.3",
"protein_id": "ENSP00000386420.3",
"transcript_support_level": 5,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4560,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409386.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4095C>G",
"hgvs_p": "p.Ala1365Ala",
"transcript": "NM_001437280.1",
"protein_id": "NP_001424209.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1458,
"cds_start": 4095,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437280.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.3930C>G",
"hgvs_p": "p.Ala1310Ala",
"transcript": "NM_001437281.1",
"protein_id": "NP_001424210.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437281.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.3693C>G",
"hgvs_p": "p.Ala1231Ala",
"transcript": "NM_001411031.1",
"protein_id": "NP_001397960.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411031.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4128C>G",
"hgvs_p": "p.Ala1376Ala",
"transcript": "XM_011518272.2",
"protein_id": "XP_011516574.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4128,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518272.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4128C>G",
"hgvs_p": "p.Ala1376Ala",
"transcript": "XM_017014301.1",
"protein_id": "XP_016869790.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4128,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014301.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.4128C>G",
"hgvs_p": "p.Ala1376Ala",
"transcript": "XM_017014302.1",
"protein_id": "XP_016869791.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4128,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014302.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "c.3963C>G",
"hgvs_p": "p.Ala1321Ala",
"transcript": "XM_011518273.3",
"protein_id": "XP_011516575.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3963,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518273.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "n.599C>G",
"hgvs_p": null,
"transcript": "ENST00000482664.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482664.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "n.3589C>G",
"hgvs_p": null,
"transcript": "ENST00000483991.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483991.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"hgvs_c": "n.335C>G",
"hgvs_p": null,
"transcript": "ENST00000487868.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487868.1"
}
],
"gene_symbol": "CAMSAP1",
"gene_hgnc_id": 19946,
"dbsnp": "rs147212718",
"frequency_reference_population": 0.0068586306,
"hom_count_reference_population": 56,
"allele_count_reference_population": 10923,
"gnomad_exomes_af": 0.00698474,
"gnomad_genomes_af": 0.00566608,
"gnomad_exomes_ac": 10060,
"gnomad_genomes_ac": 863,
"gnomad_exomes_homalt": 51,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.562,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001437279.1",
"gene_symbol": "CAMSAP1",
"hgnc_id": 19946,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4560C>G",
"hgvs_p": "p.Ala1520Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}