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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: 1-945587-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=945587&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 945587,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015658.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "NM_015658.4",
"protein_id": "NP_056473.3",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 749,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": "ENST00000327044.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015658.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "ENST00000327044.7",
"protein_id": "ENSP00000317992.6",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 749,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": "NM_015658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327044.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2200A>G",
"hgvs_p": "p.Lys734Glu",
"transcript": "ENST00000968819.1",
"protein_id": "ENSP00000638878.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 826,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968819.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2086A>G",
"hgvs_p": "p.Lys696Glu",
"transcript": "ENST00000934955.1",
"protein_id": "ENSP00000605014.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 788,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934955.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2056A>G",
"hgvs_p": "p.Lys686Glu",
"transcript": "ENST00000934954.1",
"protein_id": "ENSP00000605013.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 778,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934954.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Lys685Glu",
"transcript": "ENST00000934957.1",
"protein_id": "ENSP00000605016.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 777,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934957.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Lys685Glu",
"transcript": "ENST00000968816.1",
"protein_id": "ENSP00000638875.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 777,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968816.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Lys684Glu",
"transcript": "ENST00000934949.1",
"protein_id": "ENSP00000605008.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 776,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934949.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2044A>G",
"hgvs_p": "p.Lys682Glu",
"transcript": "ENST00000870729.1",
"protein_id": "ENSP00000540788.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 774,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870729.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2056A>G",
"hgvs_p": "p.Lys686Glu",
"transcript": "ENST00000968806.1",
"protein_id": "ENSP00000638865.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 773,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968806.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Lys680Glu",
"transcript": "ENST00000870734.1",
"protein_id": "ENSP00000540793.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 772,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870734.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Lys685Glu",
"transcript": "ENST00000968822.1",
"protein_id": "ENSP00000638881.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 772,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968822.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Lys679Glu",
"transcript": "ENST00000968812.1",
"protein_id": "ENSP00000638871.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 771,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968812.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Lys684Glu",
"transcript": "ENST00000968821.1",
"protein_id": "ENSP00000638880.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 771,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968821.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2044A>G",
"hgvs_p": "p.Lys682Glu",
"transcript": "ENST00000870726.1",
"protein_id": "ENSP00000540785.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 769,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870726.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2026A>G",
"hgvs_p": "p.Lys676Glu",
"transcript": "ENST00000934958.1",
"protein_id": "ENSP00000605017.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 768,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934958.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Lys680Glu",
"transcript": "ENST00000934941.1",
"protein_id": "ENSP00000605000.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 767,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934941.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Lys678Glu",
"transcript": "ENST00000870733.1",
"protein_id": "ENSP00000540792.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 765,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870733.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "ENST00000934959.1",
"protein_id": "ENSP00000605018.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 760,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934959.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1996A>G",
"hgvs_p": "p.Lys666Glu",
"transcript": "ENST00000968820.1",
"protein_id": "ENSP00000638879.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 758,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968820.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2005A>G",
"hgvs_p": "p.Lys669Glu",
"transcript": "ENST00000870738.1",
"protein_id": "ENSP00000540797.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 756,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870738.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Lys664Glu",
"transcript": "ENST00000934950.1",
"protein_id": "ENSP00000605009.1",
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "n.-25A>G",
"hgvs_p": null,
"transcript": "ENST00000496938.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 149,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496938.1"
}
],
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"dbsnp": null,
"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": 0.026441872119903564,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1072,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.575,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015658.4",
"gene_symbol": "NOC2L",
"hgnc_id": 24517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}