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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: 7-775151-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=775151&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 775151,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017802.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Met",
"transcript": "NM_017802.4",
"protein_id": "NP_060272.3",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 855,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000297440.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017802.4"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Met",
"transcript": "ENST00000297440.11",
"protein_id": "ENSP00000297440.6",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 855,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_017802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297440.11"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Met",
"transcript": "ENST00000403952.3",
"protein_id": "ENSP00000384884.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 280,
"cds_start": 503,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403952.3"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2309G>T",
"hgvs_p": "p.Arg770Met",
"transcript": "ENST00000852634.1",
"protein_id": "ENSP00000522693.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 882,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852634.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Arg750Met",
"transcript": "ENST00000852633.1",
"protein_id": "ENSP00000522692.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 862,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852633.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2222G>T",
"hgvs_p": "p.Arg741Met",
"transcript": "ENST00000852635.1",
"protein_id": "ENSP00000522694.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 853,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852635.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2153G>T",
"hgvs_p": "p.Arg718Met",
"transcript": "ENST00000913166.1",
"protein_id": "ENSP00000583225.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 830,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913166.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Met",
"transcript": "ENST00000852632.1",
"protein_id": "ENSP00000522691.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 791,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852632.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1799G>T",
"hgvs_p": "p.Arg600Met",
"transcript": "ENST00000852631.1",
"protein_id": "ENSP00000522690.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 712,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852631.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1631G>T",
"hgvs_p": "p.Arg544Met",
"transcript": "ENST00000440747.5",
"protein_id": "ENSP00000403165.1",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 656,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440747.5"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1799G>T",
"hgvs_p": "p.Arg600Met",
"transcript": "ENST00000913167.1",
"protein_id": "ENSP00000583226.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 648,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913167.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Arg490Met",
"transcript": "ENST00000972191.1",
"protein_id": "ENSP00000642250.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 602,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972191.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Met",
"transcript": "XM_024446813.2",
"protein_id": "XP_024302581.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 791,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "n.2188G>T",
"hgvs_p": null,
"transcript": "NR_075098.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_075098.2"
}
],
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"dbsnp": "rs3922641",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2013411819934845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.1609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.716,
"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_017802.4",
"gene_symbol": "DNAAF5",
"hgnc_id": 26013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}