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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: 3-47236071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47236071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF9",
"hgnc_id": 16666,
"hgvs_c": "c.2279G>A",
"hgvs_p": "p.Arg760Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001413976.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KIF9-AS1",
"hgnc_id": 26822,
"hgvs_c": "n.441C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000429315.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.0986,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34165388345718384,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_182902.4",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684063.1",
"protein_coding": true,
"protein_id": "NP_878905.2",
"strand": false,
"transcript": "NM_182902.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000684063.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182902.4",
"protein_coding": true,
"protein_id": "ENSP00000507186.1",
"strand": false,
"transcript": "ENST00000684063.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 2514,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000452770.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391100.2",
"strand": false,
"transcript": "ENST00000452770.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000444589.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414987.2",
"strand": false,
"transcript": "ENST00000444589.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 823,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001413976.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2279G>A",
"hgvs_p": "p.Arg760Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400905.1",
"strand": false,
"transcript": "NM_001413976.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001413975.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2222G>A",
"hgvs_p": "p.Arg741Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400904.1",
"strand": false,
"transcript": "NM_001413975.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001134878.3",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128350.1",
"strand": false,
"transcript": "NM_001134878.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000265529.7",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265529.3",
"strand": false,
"transcript": "ENST00000265529.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2824,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000888734.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558793.1",
"strand": false,
"transcript": "ENST00000888734.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 2820,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000888735.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558794.1",
"strand": false,
"transcript": "ENST00000888735.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000888736.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558795.1",
"strand": false,
"transcript": "ENST00000888736.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000888737.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558796.1",
"strand": false,
"transcript": "ENST00000888737.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 769,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000964531.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2117G>A",
"hgvs_p": "p.Arg706Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634590.1",
"strand": false,
"transcript": "ENST00000964531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964530.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2003G>A",
"hgvs_p": "p.Arg668Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634589.1",
"strand": false,
"transcript": "ENST00000964530.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_022342.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071737.1",
"strand": false,
"transcript": "NM_022342.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000964529.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634588.1",
"strand": false,
"transcript": "ENST00000964529.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 715,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 2265,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1955,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001377474.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1955G>A",
"hgvs_p": "p.Arg652Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364403.1",
"strand": false,
"transcript": "NM_001377474.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001377475.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364404.1",
"strand": false,
"transcript": "NM_001377475.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017007029.2",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862518.1",
"strand": false,
"transcript": "XM_017007029.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448709.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304665.1",
"strand": false,
"transcript": "XM_047448709.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
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