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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: 9-133463535-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133463535&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133463535,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000316948.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "NM_017586.5",
"protein_id": "NP_060056.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 172,
"cds_start": 174,
"cds_end": null,
"cds_length": 519,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "ENST00000316948.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "ENST00000316948.9",
"protein_id": "ENSP00000317121.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 172,
"cds_start": 174,
"cds_end": null,
"cds_length": 519,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "NM_017586.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.-16T>G",
"hgvs_p": null,
"transcript": "XM_024447398.2",
"protein_id": "XP_024303166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "NM_001242369.2",
"protein_id": "NP_001229298.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 233,
"cds_start": 174,
"cds_end": null,
"cds_length": 702,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "ENST00000540581.5",
"protein_id": "ENSP00000440832.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 233,
"cds_start": 174,
"cds_end": null,
"cds_length": 702,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "NM_001242370.2",
"protein_id": "NP_001229299.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 191,
"cds_start": 174,
"cds_end": null,
"cds_length": 576,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "ENST00000542192.5",
"protein_id": "ENSP00000444328.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 191,
"cds_start": 174,
"cds_end": null,
"cds_length": 576,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "NM_001135775.4",
"protein_id": "NP_001129247.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 130,
"cds_start": 174,
"cds_end": null,
"cds_length": 393,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met",
"transcript": "ENST00000291722.11",
"protein_id": "ENSP00000291722.7",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 130,
"cds_start": 174,
"cds_end": null,
"cds_length": 393,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.90T>G",
"hgvs_p": "p.Ile30Met",
"transcript": "ENST00000444798.1",
"protein_id": "ENSP00000414495.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 113,
"cds_start": 90,
"cds_end": null,
"cds_length": 344,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.90T>G",
"hgvs_p": "p.Ile30Met",
"transcript": "XM_011518181.3",
"protein_id": "XP_011516483.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 205,
"cds_start": 90,
"cds_end": null,
"cds_length": 618,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.90T>G",
"hgvs_p": "p.Ile30Met",
"transcript": "XM_011518184.2",
"protein_id": "XP_011516486.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 163,
"cds_start": 90,
"cds_end": null,
"cds_length": 492,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.90T>G",
"hgvs_p": "p.Ile30Met",
"transcript": "XM_011518185.3",
"protein_id": "XP_011516487.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 144,
"cds_start": 90,
"cds_end": null,
"cds_length": 435,
"cdna_start": 1832,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "n.254T>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "n.243T>G",
"hgvs_p": null,
"transcript": "ENST00000489519.1",
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.-16T>G",
"hgvs_p": null,
"transcript": "XM_024447398.2",
"protein_id": "XP_024303166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"dbsnp": "rs3124765",
"frequency_reference_population": 0.0067150937,
"hom_count_reference_population": 49,
"allele_count_reference_population": 10838,
"gnomad_exomes_af": 0.00686319,
"gnomad_genomes_af": 0.00529337,
"gnomad_exomes_ac": 10032,
"gnomad_genomes_ac": 806,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056706637144088745,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.4,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2223,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -2.293,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000316948.9",
"gene_symbol": "CACFD1",
"hgnc_id": 1365,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.174T>G",
"hgvs_p": "p.Ile58Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}