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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: 6-88904783-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=88904783&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 88904783,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003800.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "NM_003800.5",
"protein_id": "NP_003791.3",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 597,
"cds_start": 616,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369485.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003800.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000369485.9",
"protein_id": "ENSP00000358497.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 597,
"cds_start": 616,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003800.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369485.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000369475.7",
"protein_id": "ENSP00000358487.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 574,
"cds_start": 616,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369475.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000538899.2",
"protein_id": "ENSP00000442609.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 457,
"cds_start": 616,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538899.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000923817.1",
"protein_id": "ENSP00000593876.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 678,
"cds_start": 616,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923817.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000923818.1",
"protein_id": "ENSP00000593877.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 603,
"cds_start": 616,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923818.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000961643.1",
"protein_id": "ENSP00000631702.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 595,
"cds_start": 616,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961643.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Gly194Arg",
"transcript": "ENST00000871524.1",
"protein_id": "ENSP00000541583.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 585,
"cds_start": 580,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871524.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000923815.1",
"protein_id": "ENSP00000593874.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 583,
"cds_start": 616,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923815.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "NM_001286426.2",
"protein_id": "NP_001273355.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 574,
"cds_start": 616,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286426.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "ENST00000923816.1",
"protein_id": "ENSP00000593875.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 573,
"cds_start": 616,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923816.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Gly146Arg",
"transcript": "NM_001286428.2",
"protein_id": "NP_001273357.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 514,
"cds_start": 436,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286428.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "XM_047419442.1",
"protein_id": "XP_047275398.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 590,
"cds_start": 616,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419442.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "XM_047419443.1",
"protein_id": "XP_047275399.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 527,
"cds_start": 616,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"hgvs_c": "n.768G>A",
"hgvs_p": null,
"transcript": "ENST00000627296.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000627296.1"
}
],
"gene_symbol": "RNGTT",
"gene_hgnc_id": 10073,
"dbsnp": null,
"frequency_reference_population": 0.0000013681126,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19942444562911987,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.2048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.225,
"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_003800.5",
"gene_symbol": "RNGTT",
"hgnc_id": 10073,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}