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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: 21-32311866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32311866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32311866,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178817.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Ile",
"transcript": "NM_001379228.1",
"protein_id": "NP_001366157.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 172,
"cds_start": 389,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303645.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379228.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Ile",
"transcript": "ENST00000303645.10",
"protein_id": "ENSP00000306697.5",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 172,
"cds_start": 389,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379228.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303645.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Ile",
"transcript": "ENST00000399784.6",
"protein_id": "ENSP00000382684.2",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 172,
"cds_start": 389,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399784.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB1",
"gene_hgnc_id": 17344,
"hgvs_c": "c.*3052G>A",
"hgvs_p": null,
"transcript": "NM_014825.3",
"protein_id": "NP_055640.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2271,
"cds_start": null,
"cds_end": null,
"cds_length": 6816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382751.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014825.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB1",
"gene_hgnc_id": 17344,
"hgvs_c": "c.*3052G>A",
"hgvs_p": null,
"transcript": "ENST00000382751.4",
"protein_id": "ENSP00000372199.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2271,
"cds_start": null,
"cds_end": null,
"cds_length": 6816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014825.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382751.4"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.207-2685C>T",
"hgvs_p": null,
"transcript": "ENST00000339944.4",
"protein_id": "ENSP00000343661.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339944.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "n.460C>T",
"hgvs_p": null,
"transcript": "ENST00000497833.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497833.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Ile",
"transcript": "NM_178817.4",
"protein_id": "NP_848932.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 172,
"cds_start": 389,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178817.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Thr128Ile",
"transcript": "ENST00000961467.1",
"protein_id": "ENSP00000631526.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 170,
"cds_start": 383,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961467.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Ile",
"transcript": "NM_001285394.2",
"protein_id": "NP_001272323.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 113,
"cds_start": 212,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285394.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"hgvs_c": "c.207-2685C>T",
"hgvs_p": null,
"transcript": "NM_206898.2",
"protein_id": "NP_996781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206898.2"
}
],
"gene_symbol": "MRAP",
"gene_hgnc_id": 1304,
"dbsnp": "rs114530014",
"frequency_reference_population": 0.0024830345,
"hom_count_reference_population": 80,
"allele_count_reference_population": 4008,
"gnomad_exomes_af": 0.00127719,
"gnomad_genomes_af": 0.0140534,
"gnomad_exomes_ac": 1867,
"gnomad_genomes_ac": 2141,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 46,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0023000240325927734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.1024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.681,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_178817.4",
"gene_symbol": "MRAP",
"hgnc_id": 1304,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Ile"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014825.3",
"gene_symbol": "URB1",
"hgnc_id": 17344,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3052G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Glucocorticoid deficiency 2,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Glucocorticoid deficiency 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}