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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: 9-133468580-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133468580&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133468580,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000316948.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "NM_017586.5",
"protein_id": "NP_060056.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 172,
"cds_start": 446,
"cds_end": null,
"cds_length": 519,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "ENST00000316948.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "ENST00000316948.9",
"protein_id": "ENSP00000317121.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 172,
"cds_start": 446,
"cds_end": null,
"cds_length": 519,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "NM_017586.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Met191Val",
"transcript": "NM_001242369.2",
"protein_id": "NP_001229298.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 233,
"cds_start": 571,
"cds_end": null,
"cds_length": 702,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Met191Val",
"transcript": "ENST00000540581.5",
"protein_id": "ENSP00000440832.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 233,
"cds_start": 571,
"cds_end": null,
"cds_length": 702,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Met149Val",
"transcript": "NM_001242370.2",
"protein_id": "NP_001229299.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 191,
"cds_start": 445,
"cds_end": null,
"cds_length": 576,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Met149Val",
"transcript": "ENST00000542192.5",
"protein_id": "ENSP00000444328.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 191,
"cds_start": 445,
"cds_end": null,
"cds_length": 576,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001135775.4",
"protein_id": "NP_001129247.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 130,
"cds_start": 320,
"cds_end": null,
"cds_length": 393,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000291722.11",
"protein_id": "ENSP00000291722.7",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 130,
"cds_start": 320,
"cds_end": null,
"cds_length": 393,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Met163Val",
"transcript": "XM_011518181.3",
"protein_id": "XP_011516483.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 205,
"cds_start": 487,
"cds_end": null,
"cds_length": 618,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Met128Val",
"transcript": "XM_024447398.2",
"protein_id": "XP_024303166.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 170,
"cds_start": 382,
"cds_end": null,
"cds_length": 513,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Met121Val",
"transcript": "XM_011518184.2",
"protein_id": "XP_011516486.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 163,
"cds_start": 361,
"cds_end": null,
"cds_length": 492,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Tyr121Cys",
"transcript": "XM_011518185.3",
"protein_id": "XP_011516487.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 144,
"cds_start": 362,
"cds_end": null,
"cds_length": 435,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "n.650A>G",
"hgvs_p": null,
"transcript": "ENST00000474734.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902295",
"gene_hgnc_id": null,
"hgvs_c": "n.-13T>C",
"hgvs_p": null,
"transcript": "XR_007061831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"dbsnp": "rs1554800117",
"frequency_reference_population": 0.0000012604729,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.97076e-7,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2080262303352356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.5956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.634,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000316948.9",
"gene_symbol": "CACFD1",
"hgnc_id": 1365,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061831.1",
"gene_symbol": "LOC124902295",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-13T>C",
"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
}