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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: 1-945611-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=945611&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOC2L",
"hgnc_id": 24517,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Ala654Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_015658.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 78,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0733,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"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": 0.07812133431434631,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "A",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_015658.4",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Ala654Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327044.7",
"protein_coding": true,
"protein_id": "NP_056473.3",
"strand": false,
"transcript": "NM_015658.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "A",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000327044.7",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Ala654Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015658.4",
"protein_coding": true,
"protein_id": "ENSP00000317992.6",
"strand": false,
"transcript": "ENST00000327044.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 826,
"aa_ref": "A",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2176,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968819.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2176G>A",
"hgvs_p": "p.Ala726Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638878.1",
"strand": false,
"transcript": "ENST00000968819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 788,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934955.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605014.1",
"strand": false,
"transcript": "ENST00000934955.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934954.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Ala678Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605013.1",
"strand": false,
"transcript": "ENST00000934954.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 777,
"aa_ref": "A",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2029,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000934957.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2029G>A",
"hgvs_p": "p.Ala677Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605016.1",
"strand": false,
"transcript": "ENST00000934957.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 777,
"aa_ref": "A",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2029,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968816.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2029G>A",
"hgvs_p": "p.Ala677Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638875.1",
"strand": false,
"transcript": "ENST00000968816.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 776,
"aa_ref": "A",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000934949.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Ala676Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605008.1",
"strand": false,
"transcript": "ENST00000934949.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 774,
"aa_ref": "A",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2325,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870729.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Ala674Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540788.1",
"strand": false,
"transcript": "ENST00000870729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 773,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000968806.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Ala678Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638865.1",
"strand": false,
"transcript": "ENST00000968806.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 772,
"aa_ref": "A",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870734.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Ala672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540793.1",
"strand": false,
"transcript": "ENST00000870734.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 772,
"aa_ref": "A",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2029,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968822.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2029G>A",
"hgvs_p": "p.Ala677Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638881.1",
"strand": false,
"transcript": "ENST00000968822.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 771,
"aa_ref": "A",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968812.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2011G>A",
"hgvs_p": "p.Ala671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638871.1",
"strand": false,
"transcript": "ENST00000968812.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 771,
"aa_ref": "A",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968821.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Ala676Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638880.1",
"strand": false,
"transcript": "ENST00000968821.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "A",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870726.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Ala674Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540785.1",
"strand": false,
"transcript": "ENST00000870726.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 768,
"aa_ref": "A",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934958.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Ala668Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605017.1",
"strand": false,
"transcript": "ENST00000934958.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 767,
"aa_ref": "A",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934941.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Ala672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605000.1",
"strand": false,
"transcript": "ENST00000934941.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 765,
"aa_ref": "A",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2298,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870733.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Ala670Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540792.1",
"strand": false,
"transcript": "ENST00000870733.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1978,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934959.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Ala660Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605018.1",
"strand": false,
"transcript": "ENST00000934959.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 758,
"aa_ref": "A",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968820.1",
"gene_hgnc_id": 24517,
"gene_symbol": "NOC2L",
"hgvs_c": "c.1972G>A",
"hgvs_p": "p.Ala658Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638879.1",
"strand": false,
"transcript": "ENST00000968820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 756,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 1997,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
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{
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],
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}
]
}