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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: 14-93242487-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93242487&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 93242487,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001002860.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "NM_001002860.4",
"protein_id": "NP_001002860.2",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334746.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002860.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "ENST00000334746.10",
"protein_id": "ENSP00000335615.5",
"transcript_support_level": 1,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002860.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334746.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.2132C>G",
"hgvs_p": "p.Thr711Ser",
"transcript": "ENST00000554565.5",
"protein_id": "ENSP00000451010.1",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 781,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554565.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "ENST00000893710.1",
"protein_id": "ENSP00000563769.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893710.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3041C>G",
"hgvs_p": "p.Thr1014Ser",
"transcript": "ENST00000893707.1",
"protein_id": "ENSP00000563766.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3041,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893707.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.2723C>G",
"hgvs_p": "p.Thr908Ser",
"transcript": "ENST00000893708.1",
"protein_id": "ENSP00000563767.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 978,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893708.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.2132C>G",
"hgvs_p": "p.Thr711Ser",
"transcript": "NM_001289133.2",
"protein_id": "NP_001276062.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 781,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289133.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.2105C>G",
"hgvs_p": "p.Thr702Ser",
"transcript": "ENST00000893709.1",
"protein_id": "ENSP00000563768.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 772,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893709.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.2030C>G",
"hgvs_p": "p.Thr677Ser",
"transcript": "ENST00000553975.1",
"protein_id": "ENSP00000450778.1",
"transcript_support_level": 2,
"aa_start": 677,
"aa_end": null,
"aa_length": 747,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553975.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "XM_011536939.3",
"protein_id": "XP_011535241.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536939.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "XM_047431565.1",
"protein_id": "XP_047287521.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431565.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser",
"transcript": "XM_047431566.1",
"protein_id": "XP_047287522.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431566.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "c.1760C>G",
"hgvs_p": "p.Thr587Ser",
"transcript": "XM_017021438.2",
"protein_id": "XP_016876927.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 657,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021438.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "n.*1806C>G",
"hgvs_p": null,
"transcript": "ENST00000355125.3",
"protein_id": "ENSP00000347246.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000355125.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"hgvs_c": "n.*1806C>G",
"hgvs_p": null,
"transcript": "ENST00000355125.3",
"protein_id": "ENSP00000347246.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000355125.3"
}
],
"gene_symbol": "BTBD7",
"gene_hgnc_id": 18269,
"dbsnp": "rs747016085",
"frequency_reference_population": 0.000009292898,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820853,
"gnomad_genomes_af": 0.0000197055,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2211662232875824,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1313,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.637,
"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": "NM_001002860.4",
"gene_symbol": "BTBD7",
"hgnc_id": 18269,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}