← Back to variant description
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: X-16845907-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16845907&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16845907,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002893.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ser377Leu",
"transcript": "NM_002893.4",
"protein_id": "NP_002884.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 425,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "ENST00000380087.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ser377Leu",
"transcript": "ENST00000380087.7",
"protein_id": "ENSP00000369427.3",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 425,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "NM_002893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "NM_001198719.2",
"protein_id": "NP_001185648.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 469,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "ENST00000380084.8",
"protein_id": "ENSP00000369424.4",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 469,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ser368Leu",
"transcript": "ENST00000404022.5",
"protein_id": "ENSP00000386068.1",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 416,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ser37Leu",
"transcript": "ENST00000425696.5",
"protein_id": "ENSP00000415747.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 85,
"cds_start": 110,
"cds_end": null,
"cds_length": 258,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Ser466Leu",
"transcript": "XM_047442291.1",
"protein_id": "XP_047298247.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 514,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Ser422Leu",
"transcript": "XM_047442292.1",
"protein_id": "XP_047298248.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 470,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.325C>T",
"hgvs_p": null,
"transcript": "ENST00000330735.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.3502C>T",
"hgvs_p": null,
"transcript": "ENST00000465244.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.467C>T",
"hgvs_p": null,
"transcript": "ENST00000481586.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8924761414527893,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.608,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.926,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002893.4",
"gene_symbol": "RBBP7",
"hgnc_id": 9890,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ser377Leu"
}
],
"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
}