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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: 9-37692735-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37692735&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FRMPD1",
"hgnc_id": 29159,
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014907.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255872",
"hgnc_id": null,
"hgvs_c": "n.*1135+406_*1135+407delGAinsAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000540557.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 239,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014907.3",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377765.8",
"protein_coding": true,
"protein_id": "NP_055722.2",
"strand": true,
"transcript": "NM_014907.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 239,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377765.8",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014907.3",
"protein_coding": true,
"protein_id": "ENSP00000366995.3",
"strand": true,
"transcript": "ENST00000377765.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 687,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539465.5",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444411.1",
"strand": true,
"transcript": "ENST00000539465.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540557.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255872",
"hgvs_c": "n.*1135+406_*1135+407delGAinsAG",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457548.1",
"strand": false,
"transcript": "ENST00000540557.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 683,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371223.1",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358152.1",
"strand": true,
"transcript": "NM_001371223.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": 290,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371224.1",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358153.1",
"strand": true,
"transcript": "NM_001371224.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4987,
"cdna_start": 209,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371225.1",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358154.1",
"strand": true,
"transcript": "NM_001371225.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 61,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 499,
"cdna_start": 405,
"cds_end": null,
"cds_length": 188,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359927.3",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439868.1",
"strand": true,
"transcript": "ENST00000359927.3",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5259,
"cdna_start": 481,
"cds_end": null,
"cds_length": 4737,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423003.1",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.94_95delTCinsCT",
"hgvs_p": "p.Ser32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278959.1",
"strand": true,
"transcript": "XM_047423003.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 239,
"cds_end": null,
"cds_length": 4362,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517805.3",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.26_27delTCinsCT",
"hgvs_p": "p.Leu9Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516107.1",
"strand": true,
"transcript": "XM_011517805.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 683,
"cds_end": null,
"cds_length": 4362,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017014482.2",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "c.26_27delTCinsCT",
"hgvs_p": "p.Leu9Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869971.1",
"strand": true,
"transcript": "XM_017014482.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_929220.3",
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"hgvs_c": "n.239_240delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_929220.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29159,
"gene_symbol": "FRMPD1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.362,
"pos": 37692735,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_014907.3"
}
]
}