← 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: 7-128317702-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128317702&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128317702,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018077.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "NM_018077.3",
"protein_id": "NP_060547.2",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 759,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 15507,
"mane_select": "ENST00000223073.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018077.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln",
"transcript": "ENST00000223073.6",
"protein_id": "ENSP00000223073.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 759,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 15507,
"mane_select": "NM_018077.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223073.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000899022.1",
"protein_id": "ENSP00000569080.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 781,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899022.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579Gln",
"transcript": "ENST00000968249.1",
"protein_id": "ENSP00000638308.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 756,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968249.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1730G>A",
"hgvs_p": "p.Arg577Gln",
"transcript": "ENST00000937193.1",
"protein_id": "ENSP00000607252.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 754,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937193.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000899025.1",
"protein_id": "ENSP00000569083.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 689,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899025.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "NM_001166135.2",
"protein_id": "NP_001159607.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 618,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 15084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166135.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "ENST00000415472.6",
"protein_id": "ENSP00000390517.2",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 618,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415472.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417Gln",
"transcript": "ENST00000968248.1",
"protein_id": "ENSP00000638307.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 594,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968248.1"
},
{
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1713+255G>A",
"hgvs_p": null,
"transcript": "ENST00000968247.1",
"protein_id": "ENSP00000638306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968247.1"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "c.1564-2682G>A",
"hgvs_p": null,
"transcript": "ENST00000899023.1",
"protein_id": "ENSP00000569082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899023.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"hgvs_c": "n.161-2682G>A",
"hgvs_p": null,
"transcript": "ENST00000481788.1",
"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": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481788.1"
}
],
"gene_symbol": "RBM28",
"gene_hgnc_id": 21863,
"dbsnp": "rs201234922",
"frequency_reference_population": 0.000019268373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.000019222,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13612118363380432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.925,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
"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": "NM_018077.3",
"gene_symbol": "RBM28",
"hgnc_id": 21863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582Gln"
}
],
"clinvar_disease": "ANE syndrome,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "ANE syndrome|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}