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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: 2-219172848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219172848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219172848,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015680.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "NM_015680.6",
"protein_id": "NP_056495.4",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360507.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015680.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000360507.10",
"protein_id": "ENSP00000353698.5",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015680.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360507.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000409789.5",
"protein_id": "ENSP00000386277.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409789.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000874465.1",
"protein_id": "ENSP00000544524.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 437,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874465.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000874467.1",
"protein_id": "ENSP00000544526.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 437,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874467.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000874468.1",
"protein_id": "ENSP00000544527.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 437,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874468.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "ENST00000960025.1",
"protein_id": "ENSP00000630084.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 420,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960025.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "NM_001321389.2",
"protein_id": "NP_001308318.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321389.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "NM_001321390.2",
"protein_id": "NP_001308319.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321390.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "NM_001321391.2",
"protein_id": "NP_001308320.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321391.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000874461.1",
"protein_id": "ENSP00000544520.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874461.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000874462.1",
"protein_id": "ENSP00000544521.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874462.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000874463.1",
"protein_id": "ENSP00000544522.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874463.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000874464.1",
"protein_id": "ENSP00000544523.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874464.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000874466.1",
"protein_id": "ENSP00000544525.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874466.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000922693.1",
"protein_id": "ENSP00000592752.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 410,
"cds_start": 971,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922693.1"
},
{
"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": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "n.999C>T",
"hgvs_p": null,
"transcript": "NR_135628.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "n.1006C>T",
"hgvs_p": null,
"transcript": "NR_135629.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135629.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.*46C>T",
"hgvs_p": null,
"transcript": "ENST00000453038.5",
"protein_id": "ENSP00000410109.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPPD1",
"gene_hgnc_id": 25220,
"hgvs_c": "c.*203C>T",
"hgvs_p": null,
"transcript": "ENST00000451647.1",
"protein_id": "ENSP00000405997.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451647.1"
}
],
"gene_symbol": "CNPPD1",
"gene_hgnc_id": 25220,
"dbsnp": "rs144214406",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08609095215797424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_015680.6",
"gene_symbol": "CNPPD1",
"hgnc_id": 25220,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}