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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: 17-47916631-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47916631&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SP2",
"hgnc_id": 11207,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_003110.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SP2-AS1",
"hgnc_id": 51341,
"hgvs_c": "n.177+1821G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000411573.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.1916,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "17",
"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": 0.029035836458206177,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 613,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1842,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003110.6",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376741.5",
"protein_coding": true,
"protein_id": "NP_003101.3",
"strand": true,
"transcript": "NM_003110.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 613,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1842,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000376741.5",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003110.6",
"protein_coding": true,
"protein_id": "ENSP00000365931.4",
"strand": true,
"transcript": "ENST00000376741.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1797,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884863.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Ser172Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554922.1",
"strand": true,
"transcript": "ENST00000884863.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 771,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5869,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2316,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011525136.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523438.1",
"strand": true,
"transcript": "XM_011525136.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5797,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2307,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011525137.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523439.1",
"strand": true,
"transcript": "XM_011525137.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 760,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2283,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011525138.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523440.1",
"strand": true,
"transcript": "XM_011525138.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 717,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 2154,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011525140.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523442.1",
"strand": true,
"transcript": "XM_011525140.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 611,
"cds_end": null,
"cds_length": 2004,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006722023.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722086.1",
"strand": true,
"transcript": "XM_006722023.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 664,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1995,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047436569.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292525.1",
"strand": true,
"transcript": "XM_047436569.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4264,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006722025.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722088.1",
"strand": true,
"transcript": "XM_006722025.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006722027.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722090.1",
"strand": true,
"transcript": "XM_006722027.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011525139.3",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523441.2",
"strand": true,
"transcript": "XM_011525139.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011525143.2",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523445.1",
"strand": true,
"transcript": "XM_011525143.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017024968.2",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880457.1",
"strand": true,
"transcript": "XM_017024968.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436570.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292526.1",
"strand": true,
"transcript": "XM_047436570.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4487,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436571.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292527.1",
"strand": true,
"transcript": "XM_047436571.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4420,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436572.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292528.1",
"strand": true,
"transcript": "XM_047436572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1983,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436573.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292529.1",
"strand": true,
"transcript": "XM_047436573.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 657,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1974,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047436575.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292531.1",
"strand": true,
"transcript": "XM_047436575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 656,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1971,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047436576.1",
"gene_hgnc_id": 11207,
"gene_symbol": "SP2",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ser187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292532.1",
"strand": true,
"transcript": "XM_047436576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1821,
"cds_start": 539,
"consequences": [
"missense_variant"
],
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