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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: 9-97329203-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97329203&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 97329203,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_020893.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "c.1789-951A>G",
"hgvs_p": null,
"transcript": "NM_020893.6",
"protein_id": "NP_065944.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": null,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529487.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020893.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "c.1789-951A>G",
"hgvs_p": null,
"transcript": "ENST00000529487.3",
"protein_id": "ENSP00000434727.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": null,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020893.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529487.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "n.1992-951A>G",
"hgvs_p": null,
"transcript": "ENST00000494917.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000494917.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "c.1789-951A>G",
"hgvs_p": null,
"transcript": "ENST00000867263.1",
"protein_id": "ENSP00000537322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": null,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "c.1789-951A>G",
"hgvs_p": null,
"transcript": "ENST00000960338.1",
"protein_id": "ENSP00000630397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": null,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "c.1780-951A>G",
"hgvs_p": null,
"transcript": "NM_001348010.4",
"protein_id": "NP_001334939.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": null,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348010.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.3273-951A>G",
"hgvs_p": null,
"transcript": "ENST00000375206.6",
"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": "ENST00000375206.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"hgvs_c": "n.2123-951A>G",
"hgvs_p": null,
"transcript": "ENST00000460482.6",
"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": "ENST00000460482.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.2280-951A>G",
"hgvs_p": null,
"transcript": "ENST00000529787.2",
"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": "ENST00000529787.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.2634-951A>G",
"hgvs_p": null,
"transcript": "ENST00000532526.5",
"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": "ENST00000532526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.3074-951A>G",
"hgvs_p": null,
"transcript": "ENST00000534123.5",
"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": "ENST00000534123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.3344-951A>G",
"hgvs_p": null,
"transcript": "NR_036527.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_036527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.3344-951A>G",
"hgvs_p": null,
"transcript": "NR_036528.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_036528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"gene_hgnc_id": 53835,
"hgvs_c": "n.2904-951A>G",
"hgvs_p": null,
"transcript": "NR_036529.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_036529.1"
}
],
"gene_symbol": "CCDC180",
"gene_hgnc_id": 29303,
"dbsnp": "rs4743077",
"frequency_reference_population": 0.5473198,
"hom_count_reference_population": 24170,
"allele_count_reference_population": 83278,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.54732,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 83278,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 24170,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.2,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020893.6",
"gene_symbol": "CCDC180",
"hgnc_id": 29303,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1789-951A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375206.6",
"gene_symbol": "SUGT1P4-STRA6LP-CCDC180",
"hgnc_id": 53835,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3273-951A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}