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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: 16-3739645-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3739645&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3739645,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004380.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu",
"transcript": "NM_004380.3",
"protein_id": "NP_004371.2",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4213,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262367.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004380.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu",
"transcript": "ENST00000262367.10",
"protein_id": "ENSP00000262367.5",
"transcript_support_level": 1,
"aa_start": 1405,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4213,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004380.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262367.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4099G>C",
"hgvs_p": "p.Val1367Leu",
"transcript": "ENST00000382070.7",
"protein_id": "ENSP00000371502.3",
"transcript_support_level": 1,
"aa_start": 1367,
"aa_end": null,
"aa_length": 2404,
"cds_start": 4099,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382070.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4099G>C",
"hgvs_p": "p.Val1367Leu",
"transcript": "NM_001079846.1",
"protein_id": "NP_001073315.1",
"transcript_support_level": null,
"aa_start": 1367,
"aa_end": null,
"aa_length": 2404,
"cds_start": 4099,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079846.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.2848G>C",
"hgvs_p": "p.Val950Leu",
"transcript": "ENST00000570939.2",
"protein_id": "ENSP00000461002.2",
"transcript_support_level": 5,
"aa_start": 950,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570939.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Val173Leu",
"transcript": "ENST00000573517.6",
"protein_id": "ENSP00000460474.2",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 195,
"cds_start": 517,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573517.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4207G>C",
"hgvs_p": "p.Val1403Leu",
"transcript": "XM_017022944.2",
"protein_id": "XP_016878433.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 2440,
"cds_start": 4207,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022944.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4168G>C",
"hgvs_p": "p.Val1390Leu",
"transcript": "XM_005255124.5",
"protein_id": "XP_005255181.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2427,
"cds_start": 4168,
"cds_end": null,
"cds_length": 7284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255124.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4162G>C",
"hgvs_p": "p.Val1388Leu",
"transcript": "XM_047433624.1",
"protein_id": "XP_047289580.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 2425,
"cds_start": 4162,
"cds_end": null,
"cds_length": 7278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433624.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4054G>C",
"hgvs_p": "p.Val1352Leu",
"transcript": "XM_047433625.1",
"protein_id": "XP_047289581.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 2389,
"cds_start": 4054,
"cds_end": null,
"cds_length": 7170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433625.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3796G>C",
"hgvs_p": "p.Val1266Leu",
"transcript": "XM_005255125.5",
"protein_id": "XP_005255182.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 2303,
"cds_start": 3796,
"cds_end": null,
"cds_length": 6912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255125.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.3460G>C",
"hgvs_p": "p.Val1154Leu",
"transcript": "XM_011522381.3",
"protein_id": "XP_011520683.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 2191,
"cds_start": 3460,
"cds_end": null,
"cds_length": 6576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522381.3"
},
{
"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": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "c.4133+754G>C",
"hgvs_p": null,
"transcript": "XM_006720848.4",
"protein_id": "XP_006720911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2355,
"cds_start": null,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720848.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "n.3150G>C",
"hgvs_p": null,
"transcript": "ENST00000576720.1",
"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": "ENST00000576720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"hgvs_c": "n.215+754G>C",
"hgvs_p": null,
"transcript": "ENST00000574740.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000574740.1"
}
],
"gene_symbol": "CREBBP",
"gene_hgnc_id": 2348,
"dbsnp": "rs140133512",
"frequency_reference_population": 0.000006570302,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9330666661262512,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.871,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7328,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.842,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004380.3",
"gene_symbol": "CREBBP",
"hgnc_id": 2348,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}