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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: 1-103533851-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=103533851&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNPC3",
"hgnc_id": 18666,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_017619.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 103,
"alphamissense_prediction": null,
"alphamissense_score": 0.0731,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08588406443595886,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017619.4",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423855.7",
"protein_coding": true,
"protein_id": "NP_060089.1",
"strand": true,
"transcript": "NM_017619.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000423855.7",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017619.4",
"protein_coding": true,
"protein_id": "ENSP00000391432.1",
"strand": true,
"transcript": "ENST00000423855.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533099.5",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432886.1",
"strand": true,
"transcript": "ENST00000533099.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878138.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548197.1",
"strand": true,
"transcript": "ENST00000878138.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5361,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878140.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548199.1",
"strand": true,
"transcript": "ENST00000878140.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1554,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947127.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617186.1",
"strand": true,
"transcript": "ENST00000947127.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1551,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524631.5",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437278.1",
"strand": true,
"transcript": "ENST00000524631.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1551,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878139.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548198.1",
"strand": true,
"transcript": "ENST00000878139.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1551,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878141.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548200.1",
"strand": true,
"transcript": "ENST00000878141.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1551,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878143.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548202.1",
"strand": true,
"transcript": "ENST00000878143.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1551,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947126.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617185.1",
"strand": true,
"transcript": "ENST00000947126.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1548,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878144.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548203.1",
"strand": true,
"transcript": "ENST00000878144.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3598,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1515,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878142.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548201.1",
"strand": true,
"transcript": "ENST00000878142.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1515,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878145.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548204.1",
"strand": true,
"transcript": "ENST00000878145.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2090,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1515,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947125.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617184.1",
"strand": true,
"transcript": "ENST00000947125.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 501,
"aa_ref": "K",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 408,
"cds_end": null,
"cds_length": 1506,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934247.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Lys102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604306.1",
"strand": true,
"transcript": "ENST00000934247.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1503,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947124.1",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Lys102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617183.1",
"strand": true,
"transcript": "ENST00000947124.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 184,
"aa_ref": "K",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 484,
"cds_end": null,
"cds_length": 555,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531883.5",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431344.1",
"strand": true,
"transcript": "ENST00000531883.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": null,
"cds_end": null,
"cds_length": 416,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527062.5",
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"hgvs_c": "c.-125A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436315.1",
"strand": true,
"transcript": "ENST00000527062.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754815638",
"effect": "missense_variant",
"frequency_reference_population": 0.000071184215,
"gene_hgnc_id": 18666,
"gene_symbol": "RNPC3",
"gnomad_exomes_ac": 86,
"gnomad_exomes_af": 0.0000664074,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 17,
"gnomad_genomes_af": 0.000111905,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.742,
"pos": 103533851,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017619.4"
}
]
}