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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: 13-48303971-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48303971&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48303971,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000267163.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "NM_000321.3",
"protein_id": "NP_000312.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 928,
"cds_start": 59,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": "ENST00000267163.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000267163.6",
"protein_id": "ENSP00000267163.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 928,
"cds_start": 59,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": "NM_000321.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.59C>T",
"hgvs_p": null,
"transcript": "ENST00000467505.6",
"protein_id": "ENSP00000434702.1",
"transcript_support_level": 1,
"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": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "NM_001407165.1",
"protein_id": "NP_001394094.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 923,
"cds_start": 59,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000650461.1",
"protein_id": "ENSP00000497193.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 923,
"cds_start": 59,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000713858.1",
"protein_id": "ENSP00000519163.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 893,
"cds_start": 59,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000713857.1",
"protein_id": "ENSP00000519162.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 877,
"cds_start": 59,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000713856.1",
"protein_id": "ENSP00000519161.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 851,
"cds_start": 59,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "NM_001407166.1",
"protein_id": "NP_001394095.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 568,
"cds_start": 59,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "NM_001407167.1",
"protein_id": "NP_001394096.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 103,
"cds_start": 59,
"cds_end": null,
"cds_length": 312,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000646097.1",
"protein_id": "ENSP00000496556.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 103,
"cds_start": 59,
"cds_end": null,
"cds_length": 312,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.221C>T",
"hgvs_p": null,
"transcript": "ENST00000525036.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.59C>T",
"hgvs_p": null,
"transcript": "ENST00000713859.1",
"protein_id": "ENSP00000519164.1",
"transcript_support_level": null,
"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": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000433480.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000700890.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000718572.1",
"protein_id": null,
"transcript_support_level": null,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000718576.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000718582.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1-DT",
"gene_hgnc_id": 42778,
"hgvs_c": "n.-250G>A",
"hgvs_p": null,
"transcript": "ENST00000718583.1",
"protein_id": null,
"transcript_support_level": null,
"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": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"dbsnp": "rs587778637",
"frequency_reference_population": 0.00014363803,
"hom_count_reference_population": 0,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.00014647,
"gnomad_genomes_af": 0.000118444,
"gnomad_exomes_ac": 198,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4522959291934967,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1368,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.472,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000267163.6",
"gene_symbol": "RB1",
"hgnc_id": 9884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433480.4",
"gene_symbol": "RB1-DT",
"hgnc_id": 42778,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-248G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,RB1-related disorder,Retinoblastoma,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3 O:1",
"phenotype_combined": "not specified|Retinoblastoma|Hereditary cancer-predisposing syndrome|RB1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}