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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: 16-84170327-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84170327&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84170327,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378553.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "NM_178452.6",
"protein_id": "NP_848547.4",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 725,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "ENST00000378553.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "ENST00000378553.10",
"protein_id": "ENSP00000367815.5",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 725,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "NM_178452.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Pro264Arg",
"transcript": "NM_001318756.1",
"protein_id": "NP_001305685.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 489,
"cds_start": 791,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_011522853.4",
"protein_id": "XP_011521155.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 772,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "XM_017022918.3",
"protein_id": "XP_016878407.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 756,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_011522854.4",
"protein_id": "XP_011521156.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 743,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_011522855.4",
"protein_id": "XP_011521157.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 741,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg",
"transcript": "XM_006721129.4",
"protein_id": "XP_006721192.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 727,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1286C>G",
"hgvs_p": "p.Pro429Arg",
"transcript": "XM_017022919.2",
"protein_id": "XP_016878408.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 685,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_047433589.1",
"protein_id": "XP_047289545.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 664,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_047433590.1",
"protein_id": "XP_047289546.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 662,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_011522857.4",
"protein_id": "XP_011521159.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 643,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1547C>G",
"hgvs_p": "p.Pro516Arg",
"transcript": "XM_011522858.4",
"protein_id": "XP_011521160.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 641,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Pro264Arg",
"transcript": "XM_017022920.3",
"protein_id": "XP_016878409.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 520,
"cds_start": 791,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1829,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.*54C>G",
"hgvs_p": null,
"transcript": "ENST00000563093.5",
"protein_id": "ENSP00000457373.1",
"transcript_support_level": 2,
"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": 1766,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.1176C>G",
"hgvs_p": null,
"transcript": "ENST00000563818.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1931,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.1653C>G",
"hgvs_p": null,
"transcript": "ENST00000570298.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.*54C>G",
"hgvs_p": null,
"transcript": "ENST00000563093.5",
"protein_id": "ENSP00000457373.1",
"transcript_support_level": 2,
"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": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"dbsnp": "rs138838276",
"frequency_reference_population": 0.00014269247,
"hom_count_reference_population": 1,
"allele_count_reference_population": 230,
"gnomad_exomes_af": 0.0000911234,
"gnomad_genomes_af": 0.000636909,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010858774185180664,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0711,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.371,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000378553.10",
"gene_symbol": "DNAAF1",
"hgnc_id": 30539,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Pro500Arg"
}
],
"clinvar_disease": "Primary ciliary dyskinesia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "not specified|Primary ciliary dyskinesia|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}