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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: 1-945094-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=945094&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 945094,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015658.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Asp702Glu",
"transcript": "NM_015658.4",
"protein_id": "NP_056473.3",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 749,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327044.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015658.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Asp702Glu",
"transcript": "ENST00000327044.7",
"protein_id": "ENSP00000317992.6",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 749,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327044.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2322C>G",
"hgvs_p": "p.Asp774Glu",
"transcript": "ENST00000968819.1",
"protein_id": "ENSP00000638878.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 826,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968819.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2208C>G",
"hgvs_p": "p.Asp736Glu",
"transcript": "ENST00000934955.1",
"protein_id": "ENSP00000605014.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 788,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934955.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2178C>G",
"hgvs_p": "p.Asp726Glu",
"transcript": "ENST00000934954.1",
"protein_id": "ENSP00000605013.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 778,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934954.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2175C>G",
"hgvs_p": "p.Asp725Glu",
"transcript": "ENST00000934957.1",
"protein_id": "ENSP00000605016.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 777,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934957.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2175C>G",
"hgvs_p": "p.Asp725Glu",
"transcript": "ENST00000968816.1",
"protein_id": "ENSP00000638875.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 777,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968816.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2172C>G",
"hgvs_p": "p.Asp724Glu",
"transcript": "ENST00000934949.1",
"protein_id": "ENSP00000605008.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 776,
"cds_start": 2172,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934949.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2166C>G",
"hgvs_p": "p.Asp722Glu",
"transcript": "ENST00000870729.1",
"protein_id": "ENSP00000540788.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 774,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870729.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2178C>G",
"hgvs_p": "p.Asp726Glu",
"transcript": "ENST00000968806.1",
"protein_id": "ENSP00000638865.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 773,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968806.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2160C>G",
"hgvs_p": "p.Asp720Glu",
"transcript": "ENST00000870734.1",
"protein_id": "ENSP00000540793.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 772,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870734.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2175C>G",
"hgvs_p": "p.Asp725Glu",
"transcript": "ENST00000968822.1",
"protein_id": "ENSP00000638881.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 772,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968822.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2157C>G",
"hgvs_p": "p.Asp719Glu",
"transcript": "ENST00000968812.1",
"protein_id": "ENSP00000638871.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 771,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968812.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2172C>G",
"hgvs_p": "p.Asp724Glu",
"transcript": "ENST00000968821.1",
"protein_id": "ENSP00000638880.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 771,
"cds_start": 2172,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968821.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2166C>G",
"hgvs_p": "p.Asp722Glu",
"transcript": "ENST00000870726.1",
"protein_id": "ENSP00000540785.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 769,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870726.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Asp716Glu",
"transcript": "ENST00000934958.1",
"protein_id": "ENSP00000605017.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 768,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934958.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2160C>G",
"hgvs_p": "p.Asp720Glu",
"transcript": "ENST00000934941.1",
"protein_id": "ENSP00000605000.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 767,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934941.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2154C>G",
"hgvs_p": "p.Asp718Glu",
"transcript": "ENST00000870733.1",
"protein_id": "ENSP00000540792.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 765,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870733.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2124C>G",
"hgvs_p": "p.Asp708Glu",
"transcript": "ENST00000934959.1",
"protein_id": "ENSP00000605018.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 760,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934959.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2118C>G",
"hgvs_p": "p.Asp706Glu",
"transcript": "ENST00000968820.1",
"protein_id": "ENSP00000638879.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 758,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968820.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2127C>G",
"hgvs_p": "p.Asp709Glu",
"transcript": "ENST00000870738.1",
"protein_id": "ENSP00000540797.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 756,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870738.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"hgvs_c": "c.2112C>G",
"hgvs_p": "p.Asp704Glu",
"transcript": "ENST00000934950.1",
"protein_id": "ENSP00000605009.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 756,
"cds_start": 2112,
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"gene_hgnc_id": 24517,
"hgvs_c": "n.*225C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496938.1"
}
],
"gene_symbol": "NOC2L",
"gene_hgnc_id": 24517,
"dbsnp": "rs371539737",
"frequency_reference_population": 0.000018614186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000184972,
"gnomad_genomes_af": 0.0000197374,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025586456060409546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.898,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015658.4",
"gene_symbol": "NOC2L",
"hgnc_id": 24517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Asp702Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}