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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: 9-131860576-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131860576&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131860576,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_004269.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300*",
"transcript": "NM_004269.4",
"protein_id": "NP_004260.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 311,
"cds_start": 898,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292035.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004269.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300*",
"transcript": "ENST00000292035.10",
"protein_id": "ENSP00000292035.5",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 311,
"cds_start": 898,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004269.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292035.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264*",
"transcript": "ENST00000357028.6",
"protein_id": "ENSP00000349530.3",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 275,
"cds_start": 790,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357028.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330*",
"transcript": "ENST00000897372.1",
"protein_id": "ENSP00000567431.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 341,
"cds_start": 988,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897372.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298*",
"transcript": "ENST00000897375.1",
"protein_id": "ENSP00000567434.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 309,
"cds_start": 892,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897375.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.856C>T",
"hgvs_p": "p.Arg286*",
"transcript": "ENST00000897374.1",
"protein_id": "ENSP00000567433.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 297,
"cds_start": 856,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897374.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264*",
"transcript": "NM_001253881.2",
"protein_id": "NP_001240810.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 275,
"cds_start": 790,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253881.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260*",
"transcript": "ENST00000951019.1",
"protein_id": "ENSP00000621078.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 271,
"cds_start": 778,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951019.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250*",
"transcript": "ENST00000897373.1",
"protein_id": "ENSP00000567432.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 261,
"cds_start": 748,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897373.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225*",
"transcript": "ENST00000897371.1",
"protein_id": "ENSP00000567430.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 236,
"cds_start": 673,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897371.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330*",
"transcript": "XM_017015329.2",
"protein_id": "XP_016870818.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 341,
"cds_start": 988,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.801+2487C>T",
"hgvs_p": null,
"transcript": "ENST00000651950.1",
"protein_id": "ENSP00000498604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651950.1"
}
],
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"dbsnp": "rs376222049",
"frequency_reference_population": 0.000033990225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000341105,
"gnomad_genomes_af": 0.0000328545,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"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": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.098,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004269.4",
"gene_symbol": "MED27",
"hgnc_id": 2377,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300*"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}