← 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: 6-30346723-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30346723&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30346723,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199121.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.385A>T",
"hgvs_p": "p.Thr129Ser",
"transcript": "ENST00000436442.2",
"protein_id": "ENSP00000397778.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 144,
"cds_start": 385,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436442.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Pro126Pro",
"transcript": "NM_024839.4",
"protein_id": "NP_079115.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 154,
"cds_start": 378,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000442966.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024839.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Pro126Pro",
"transcript": "ENST00000442966.7",
"protein_id": "ENSP00000403833.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 154,
"cds_start": 378,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024839.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442966.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM39-RPP21",
"gene_hgnc_id": 38845,
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Pro475Pro",
"transcript": "ENST00000623385.3",
"protein_id": "ENSP00000485378.1",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 503,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623385.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.385A>T",
"hgvs_p": "p.Thr129Ser",
"transcript": "NM_001199121.3",
"protein_id": "NP_001186050.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 144,
"cds_start": 385,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199121.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM39-RPP21",
"gene_hgnc_id": 38845,
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Pro475Pro",
"transcript": "NM_001199119.1",
"protein_id": "NP_001186048.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 503,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199119.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.447A>T",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000428040.6",
"protein_id": "ENSP00000394320.2",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 177,
"cds_start": 447,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428040.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.402A>T",
"hgvs_p": "p.Pro134Pro",
"transcript": "NM_001199120.3",
"protein_id": "NP_001186049.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 162,
"cds_start": 402,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199120.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.402A>T",
"hgvs_p": "p.Pro134Pro",
"transcript": "ENST00000433076.6",
"protein_id": "ENSP00000409799.2",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 162,
"cds_start": 402,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433076.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.399A>T",
"hgvs_p": "p.Pro133Pro",
"transcript": "ENST00000932027.1",
"protein_id": "ENSP00000602086.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 161,
"cds_start": 399,
"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": "ENST00000932027.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Pro132Pro",
"transcript": "ENST00000932025.1",
"protein_id": "ENSP00000602084.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 160,
"cds_start": 396,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932025.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.375A>T",
"hgvs_p": "p.Pro125Pro",
"transcript": "ENST00000932024.1",
"protein_id": "ENSP00000602083.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 153,
"cds_start": 375,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932024.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.354A>T",
"hgvs_p": "p.Pro118Pro",
"transcript": "ENST00000908531.1",
"protein_id": "ENSP00000578590.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 146,
"cds_start": 354,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908531.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.368-38A>T",
"hgvs_p": null,
"transcript": "ENST00000932023.1",
"protein_id": "ENSP00000602082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932023.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "c.344-38A>T",
"hgvs_p": null,
"transcript": "ENST00000932026.1",
"protein_id": "ENSP00000602085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "n.487A>T",
"hgvs_p": null,
"transcript": "ENST00000473266.1",
"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": "ENST00000473266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "n.316A>T",
"hgvs_p": null,
"transcript": "ENST00000489124.5",
"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": "ENST00000489124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "n.296A>T",
"hgvs_p": null,
"transcript": "ENST00000491477.5",
"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": "pseudogene",
"feature": "ENST00000491477.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "n.1358A>T",
"hgvs_p": null,
"transcript": "ENST00000498414.5",
"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": "ENST00000498414.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"hgvs_c": "n.*230A>T",
"hgvs_p": null,
"transcript": "ENST00000466327.5",
"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": "ENST00000466327.5"
}
],
"gene_symbol": "RPP21",
"gene_hgnc_id": 21300,
"dbsnp": "rs760975387",
"frequency_reference_population": 0.0000043386153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410612,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05030626058578491,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.305,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001199121.3",
"gene_symbol": "RPP21",
"hgnc_id": 21300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.385A>T",
"hgvs_p": "p.Thr129Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001199119.1",
"gene_symbol": "TRIM39-RPP21",
"hgnc_id": 38845,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1425A>T",
"hgvs_p": "p.Pro475Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}