← Back to variant description
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: 2-210642675-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210642675&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 210642675,
"ref": "GA",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000233072.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+15delA",
"hgvs_p": null,
"transcript": "NM_001875.5",
"protein_id": "NP_001866.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": "ENST00000233072.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+11delA",
"hgvs_p": null,
"transcript": "ENST00000233072.10",
"protein_id": "ENSP00000233072.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": "NM_001875.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3159+11delA",
"hgvs_p": null,
"transcript": "ENST00000430249.7",
"protein_id": "ENSP00000402608.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": -4,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1788+11delA",
"hgvs_p": null,
"transcript": "ENST00000451903.3",
"protein_id": "ENSP00000406136.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3174+15delA",
"hgvs_p": null,
"transcript": "NM_001369256.1",
"protein_id": "NP_001356185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+15delA",
"hgvs_p": null,
"transcript": "NM_001122633.3",
"protein_id": "NP_001116105.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+15delA",
"hgvs_p": null,
"transcript": "NM_001369257.1",
"protein_id": "NP_001356186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+11delA",
"hgvs_p": null,
"transcript": "ENST00000673510.1",
"protein_id": "ENSP00000500537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+11delA",
"hgvs_p": null,
"transcript": "ENST00000673630.1",
"protein_id": "ENSP00000501073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.3141+11delA",
"hgvs_p": null,
"transcript": "ENST00000673711.1",
"protein_id": "ENSP00000501022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.513+11delA",
"hgvs_p": null,
"transcript": "ENST00000497121.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.1620+11delA",
"hgvs_p": null,
"transcript": "ENST00000673698.1",
"protein_id": "ENSP00000501214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.2286+11delA",
"hgvs_p": null,
"transcript": "ENST00000674074.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.4050+15delA",
"hgvs_p": null,
"transcript": "NR_161225.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.2297+15delA",
"hgvs_p": null,
"transcript": "NR_163592.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"dbsnp": "rs577707531",
"frequency_reference_population": 0.007800562,
"hom_count_reference_population": 75,
"allele_count_reference_population": 12558,
"gnomad_exomes_af": 0.00796992,
"gnomad_genomes_af": 0.00616909,
"gnomad_exomes_ac": 11624,
"gnomad_genomes_ac": 934,
"gnomad_exomes_homalt": 68,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.228,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000233072.10",
"gene_symbol": "CPS1",
"hgnc_id": 2323,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3141+11delA",
"hgvs_p": null
}
],
"clinvar_disease": " type I,Congenital hyperammonemia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:2",
"phenotype_combined": "Congenital hyperammonemia, type I|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}