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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: 20-5573945-AG-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=5573945&ref=AG&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPCPD1",
"hgnc_id": 26957,
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_019593.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"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": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5434,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_019593.5",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379019.7",
"protein_coding": true,
"protein_id": "NP_062539.1",
"strand": false,
"transcript": "NM_019593.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5434,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379019.7",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019593.5",
"protein_coding": true,
"protein_id": "ENSP00000368305.4",
"strand": false,
"transcript": "ENST00000379019.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718343.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520780.1",
"strand": false,
"transcript": "ENST00000718343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873924.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543983.1",
"strand": false,
"transcript": "ENST00000873924.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3345,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873926.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543985.1",
"strand": false,
"transcript": "ENST00000873926.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873927.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543986.1",
"strand": false,
"transcript": "ENST00000873927.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5509,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922545.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592604.1",
"strand": false,
"transcript": "ENST00000922545.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5511,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959744.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629803.1",
"strand": false,
"transcript": "ENST00000959744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959745.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629804.1",
"strand": false,
"transcript": "ENST00000959745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959746.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629805.1",
"strand": false,
"transcript": "ENST00000959746.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959748.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629807.1",
"strand": false,
"transcript": "ENST00000959748.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "T",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959747.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1022_1023delCTinsGC",
"hgvs_p": "p.Thr341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629806.1",
"strand": false,
"transcript": "ENST00000959747.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 650,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873925.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543984.1",
"strand": false,
"transcript": "ENST00000873925.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5266,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922546.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.1025_1026delCTinsGC",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592605.1",
"strand": false,
"transcript": "ENST00000922546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "T",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 121,
"cds_end": null,
"cds_length": 792,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418646.5",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "c.119_120delCTinsGC",
"hgvs_p": "p.Thr40Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396720.1",
"strand": false,
"transcript": "ENST00000418646.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000473797.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "n.178_179delCTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473797.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481038.5",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "n.2433_2434delCTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481038.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000633552.1",
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"hgvs_c": "n.8_9delCTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487616.1",
"strand": false,
"transcript": "ENST00000633552.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 26957,
"gene_symbol": "GPCPD1",
"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": "Pathogenic",
"phylop100way_score": 8.948,
"pos": 5573945,
"ref": "AG",
"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_019593.5"
}
]
}