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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: 16-1772250-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1772250&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1772250,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001300900.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "NM_023936.2",
"protein_id": "NP_076425.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 218,
"cds_start": 628,
"cds_end": null,
"cds_length": 657,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "ENST00000397375.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023936.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Lys210Glu",
"transcript": "ENST00000397375.7",
"protein_id": "ENSP00000380531.3",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 218,
"cds_start": 628,
"cds_end": null,
"cds_length": 657,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "NM_023936.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397375.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu",
"transcript": "ENST00000177742.7",
"protein_id": "ENSP00000177742.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 649,
"cds_end": null,
"cds_length": 678,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000177742.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Lys220Glu",
"transcript": "ENST00000890485.1",
"protein_id": "ENSP00000560544.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 228,
"cds_start": 658,
"cds_end": null,
"cds_length": 687,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890485.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu",
"transcript": "NM_001300900.2",
"protein_id": "NP_001287829.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 649,
"cds_end": null,
"cds_length": 678,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300900.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Lys209Glu",
"transcript": "ENST00000939642.1",
"protein_id": "ENSP00000609701.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 217,
"cds_start": 625,
"cds_end": null,
"cds_length": 654,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939642.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.604A>G",
"hgvs_p": "p.Lys202Glu",
"transcript": "ENST00000890486.1",
"protein_id": "ENSP00000560545.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 210,
"cds_start": 604,
"cds_end": null,
"cds_length": 633,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890486.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Lys108Glu",
"transcript": "ENST00000939641.1",
"protein_id": "ENSP00000609700.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 116,
"cds_start": 322,
"cds_end": null,
"cds_length": 351,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "n.359A>G",
"hgvs_p": null,
"transcript": "ENST00000569585.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 713,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569585.1"
}
],
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"dbsnp": "rs375232310",
"frequency_reference_population": 0.00001180004,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000960276,
"gnomad_genomes_af": 0.0000328407,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06051212549209595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.1218,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001300900.2",
"gene_symbol": "MRPS34",
"hgnc_id": 16618,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}