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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: 8-80003006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=80003006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 80003006,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387778.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Asp130Asn",
"transcript": "NM_014018.3",
"protein_id": "NP_054737.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 187,
"cds_start": 388,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276585.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014018.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Asp130Asn",
"transcript": "ENST00000276585.9",
"protein_id": "ENSP00000276585.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 187,
"cds_start": 388,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014018.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276585.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276418",
"gene_hgnc_id": null,
"hgvs_c": "n.730G>A",
"hgvs_p": null,
"transcript": "ENST00000522938.5",
"protein_id": "ENSP00000430858.2",
"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": "ENST00000522938.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52-MRPS28",
"gene_hgnc_id": null,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn",
"transcript": "NM_001387778.1",
"protein_id": "NP_001374707.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 261,
"cds_start": 610,
"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": "NM_001387778.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Asp169Asn",
"transcript": "ENST00000854567.1",
"protein_id": "ENSP00000524626.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 226,
"cds_start": 505,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854567.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Asp124Asn",
"transcript": "ENST00000854569.1",
"protein_id": "ENSP00000524628.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 213,
"cds_start": 370,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854569.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Asp147Asn",
"transcript": "ENST00000854568.1",
"protein_id": "ENSP00000524627.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 204,
"cds_start": 439,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854568.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Asp135Asn",
"transcript": "ENST00000854562.1",
"protein_id": "ENSP00000524621.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 192,
"cds_start": 403,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854562.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Asp124Asn",
"transcript": "ENST00000854563.1",
"protein_id": "ENSP00000524622.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 181,
"cds_start": 370,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854563.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Asp115Asn",
"transcript": "ENST00000854566.1",
"protein_id": "ENSP00000524625.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 172,
"cds_start": 343,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854566.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Asp110Asn",
"transcript": "ENST00000854565.1",
"protein_id": "ENSP00000524624.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 167,
"cds_start": 328,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854565.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Asp104Asn",
"transcript": "ENST00000854564.1",
"protein_id": "ENSP00000524623.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 161,
"cds_start": 310,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854564.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Asp152Asn",
"transcript": "ENST00000518271.1",
"protein_id": "ENSP00000427846.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 160,
"cds_start": 454,
"cds_end": null,
"cds_length": 485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518271.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Asp85Asn",
"transcript": "ENST00000519386.5",
"protein_id": "ENSP00000428050.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 142,
"cds_start": 253,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519386.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Asp68Asn",
"transcript": "ENST00000521434.5",
"protein_id": "ENSP00000428880.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 125,
"cds_start": 202,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521434.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Asp68Asn",
"transcript": "ENST00000520946.1",
"protein_id": "ENSP00000430401.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 107,
"cds_start": 202,
"cds_end": null,
"cds_length": 326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520946.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Asp48Asn",
"transcript": "ENST00000519120.1",
"protein_id": "ENSP00000428744.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 102,
"cds_start": 142,
"cds_end": null,
"cds_length": 310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519120.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Asp48Asn",
"transcript": "ENST00000518371.2",
"protein_id": "ENSP00000476135.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 82,
"cds_start": 142,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518371.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "c.213+27030G>A",
"hgvs_p": null,
"transcript": "ENST00000521605.1",
"protein_id": "ENSP00000427965.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521605.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS28",
"gene_hgnc_id": 14513,
"hgvs_c": "n.316G>A",
"hgvs_p": null,
"transcript": "ENST00000522987.1",
"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": "ENST00000522987.1"
}
],
"gene_symbol": "TPD52-MRPS28",
"gene_hgnc_id": null,
"dbsnp": "rs766736892",
"frequency_reference_population": 0.0000031685115,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000210406,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14564362168312073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.1478,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.37,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387778.1",
"gene_symbol": "TPD52-MRPS28",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014018.3",
"gene_symbol": "MRPS28",
"hgnc_id": 14513,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Asp130Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000522938.5",
"gene_symbol": "ENSG00000276418",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.730G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}