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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: 19-48645455-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48645455&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48645455,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001217.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "NM_001217.5",
"protein_id": "NP_001208.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 328,
"cds_start": 90,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "ENST00000084798.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001217.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000084798.9",
"protein_id": "ENSP00000084798.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 328,
"cds_start": 90,
"cds_end": null,
"cds_length": 987,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": "NM_001217.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000084798.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC1P",
"gene_hgnc_id": null,
"hgvs_c": "n.76+7309G>C",
"hgvs_p": null,
"transcript": "ENST00000474419.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 477,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474419.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC1P",
"gene_hgnc_id": null,
"hgvs_c": "n.76+7309G>C",
"hgvs_p": null,
"transcript": "ENST00000483163.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 277,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483163.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000901036.1",
"protein_id": "ENSP00000571095.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 336,
"cds_start": 90,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901036.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000901037.1",
"protein_id": "ENSP00000571096.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 334,
"cds_start": 90,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901037.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000901034.1",
"protein_id": "ENSP00000571093.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 326,
"cds_start": 90,
"cds_end": null,
"cds_length": 981,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901034.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000901035.1",
"protein_id": "ENSP00000571094.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 320,
"cds_start": 90,
"cds_end": null,
"cds_length": 963,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901035.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu",
"transcript": "ENST00000901033.1",
"protein_id": "ENSP00000571092.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 318,
"cds_start": 90,
"cds_end": null,
"cds_length": 957,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901033.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"hgvs_c": "n.645C>G",
"hgvs_p": null,
"transcript": "NR_136241.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136241.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC1P",
"gene_hgnc_id": null,
"hgvs_c": "n.48+7309G>C",
"hgvs_p": null,
"transcript": "ENST00000430145.3",
"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": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000430145.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC1P",
"gene_hgnc_id": null,
"hgvs_c": "n.48+7309G>C",
"hgvs_p": null,
"transcript": "ENST00000843316.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000843316.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC1P",
"gene_hgnc_id": 44149,
"hgvs_c": "n.108+7309G>C",
"hgvs_p": null,
"transcript": "NR_004401.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_004401.2"
}
],
"gene_symbol": "CA11",
"gene_hgnc_id": 1370,
"dbsnp": "rs1029380930",
"frequency_reference_population": 0.000006863144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000551494,
"gnomad_genomes_af": 0.0000197161,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08451059460639954,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0902,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.798,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001217.5",
"gene_symbol": "CA11",
"hgnc_id": 1370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Asp30Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000474419.5",
"gene_symbol": "SEC1P",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.76+7309G>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
}