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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: 11-65125521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65125521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65125521,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004927.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"transcript": "NM_004927.4",
"protein_id": "NP_004918.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 166,
"cds_start": 263,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279242.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004927.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"transcript": "ENST00000279242.7",
"protein_id": "ENSP00000279242.2",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 166,
"cds_start": 263,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279242.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"transcript": "ENST00000904844.1",
"protein_id": "ENSP00000574903.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 164,
"cds_start": 257,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904844.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"transcript": "ENST00000904843.1",
"protein_id": "ENSP00000574902.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 163,
"cds_start": 263,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904843.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"transcript": "ENST00000526171.5",
"protein_id": "ENSP00000437177.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 140,
"cds_start": 263,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526171.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"transcript": "ENST00000918905.1",
"protein_id": "ENSP00000588964.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 127,
"cds_start": 146,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918905.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "ENST00000533943.1",
"protein_id": "ENSP00000434052.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 126,
"cds_start": 143,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533943.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Ala38Thr",
"transcript": "ENST00000534078.1",
"protein_id": "ENSP00000434222.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 56,
"cds_start": 112,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534078.1"
},
{
"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": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "c.229+869G>A",
"hgvs_p": null,
"transcript": "ENST00000531705.1",
"protein_id": "ENSP00000436740.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.343G>A",
"hgvs_p": null,
"transcript": "ENST00000524482.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.263G>A",
"hgvs_p": null,
"transcript": "ENST00000526319.5",
"protein_id": "ENSP00000434190.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.84G>A",
"hgvs_p": null,
"transcript": "ENST00000528529.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000528529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.797G>A",
"hgvs_p": null,
"transcript": "ENST00000532671.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.343G>A",
"hgvs_p": null,
"transcript": "NR_037567.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_037567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"hgvs_c": "n.138G>A",
"hgvs_p": null,
"transcript": "NR_037568.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_037568.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "n.259-3076C>T",
"hgvs_p": null,
"transcript": "ENST00000530451.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000530451.1"
}
],
"gene_symbol": "MRPL49",
"gene_hgnc_id": 1176,
"dbsnp": "rs1565337413",
"frequency_reference_population": 0.0000041044555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410446,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4331589937210083,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.813,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7486,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.043,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004927.4",
"gene_symbol": "MRPL49",
"hgnc_id": 1176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530451.1",
"gene_symbol": "SYVN1",
"hgnc_id": 20738,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.259-3076C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Perrault syndrome 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Perrault syndrome 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}