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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: 6-84055388-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=84055388&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 84055388,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000257776.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "NM_138409.4",
"protein_id": "NP_612418.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 70,
"cds_end": null,
"cds_length": 618,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "ENST00000257776.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000257776.5",
"protein_id": "ENSP00000257776.4",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 70,
"cds_end": null,
"cds_length": 618,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "NM_138409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "NM_001346542.2",
"protein_id": "NP_001333471.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 70,
"cds_end": null,
"cds_length": 618,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "NM_001346544.2",
"protein_id": "NP_001333473.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 70,
"cds_end": null,
"cds_length": 618,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_047418132.1",
"protein_id": "XP_047274088.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 263,
"cds_start": 70,
"cds_end": null,
"cds_length": 792,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_017010220.2",
"protein_id": "XP_016865709.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 70,
"cds_end": null,
"cds_length": 618,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "XM_017010221.3",
"protein_id": "XP_016865710.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 154,
"cds_start": 70,
"cds_end": null,
"cds_length": 465,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.-190G>T",
"hgvs_p": null,
"transcript": "NM_001346543.2",
"protein_id": "NP_001333472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": -4,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"hgvs_c": "c.-89G>T",
"hgvs_p": null,
"transcript": "NM_001346541.2",
"protein_id": "NP_001333470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MRAP2",
"gene_hgnc_id": 21232,
"dbsnp": "rs587777046",
"frequency_reference_population": 0.0000054751395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547514,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.314,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257776.5",
"gene_symbol": "MRAP2",
"hgnc_id": 21232,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*"
}
],
"clinvar_disease": "Body mass index quantitative trait locus 18",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Body mass index quantitative trait locus 18",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}