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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: 1-51790633-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51790633&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51790633,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002525.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3068A>G",
"hgvs_p": "p.Lys1023Arg",
"transcript": "NM_001101662.2",
"protein_id": "NP_001095132.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352171.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101662.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3068A>G",
"hgvs_p": "p.Lys1023Arg",
"transcript": "ENST00000352171.12",
"protein_id": "ENSP00000262679.8",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001101662.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352171.12"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Lys1091Arg",
"transcript": "ENST00000354831.11",
"protein_id": "ENSP00000346890.7",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354831.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.2876A>G",
"hgvs_p": "p.Lys959Arg",
"transcript": "ENST00000539524.5",
"protein_id": "ENSP00000444416.1",
"transcript_support_level": 1,
"aa_start": 959,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539524.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3317A>G",
"hgvs_p": "p.Lys1106Arg",
"transcript": "ENST00000911777.1",
"protein_id": "ENSP00000581836.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3317,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911777.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Lys1091Arg",
"transcript": "NM_002525.3",
"protein_id": "NP_002516.2",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002525.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Lys1091Arg",
"transcript": "ENST00000963645.1",
"protein_id": "ENSP00000633704.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963645.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3263A>G",
"hgvs_p": "p.Lys1088Arg",
"transcript": "ENST00000911782.1",
"protein_id": "ENSP00000581841.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911782.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Lys1074Arg",
"transcript": "ENST00000911787.1",
"protein_id": "ENSP00000581846.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911787.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3218A>G",
"hgvs_p": "p.Lys1073Arg",
"transcript": "ENST00000963648.1",
"protein_id": "ENSP00000633707.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963648.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3188A>G",
"hgvs_p": "p.Lys1063Arg",
"transcript": "ENST00000911778.1",
"protein_id": "ENSP00000581837.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911778.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3176A>G",
"hgvs_p": "p.Lys1059Arg",
"transcript": "ENST00000888752.1",
"protein_id": "ENSP00000558811.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888752.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3149A>G",
"hgvs_p": "p.Lys1050Arg",
"transcript": "ENST00000911788.1",
"protein_id": "ENSP00000581847.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3149,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911788.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3122A>G",
"hgvs_p": "p.Lys1041Arg",
"transcript": "ENST00000888746.1",
"protein_id": "ENSP00000558805.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888746.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3095A>G",
"hgvs_p": "p.Lys1032Arg",
"transcript": "ENST00000888750.1",
"protein_id": "ENSP00000558809.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888750.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3092A>G",
"hgvs_p": "p.Lys1031Arg",
"transcript": "ENST00000911781.1",
"protein_id": "ENSP00000581840.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911781.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3074A>G",
"hgvs_p": "p.Lys1025Arg",
"transcript": "ENST00000888744.1",
"protein_id": "ENSP00000558803.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888744.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.Lys1024Arg",
"transcript": "ENST00000963644.1",
"protein_id": "ENSP00000633703.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963644.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3068A>G",
"hgvs_p": "p.Lys1023Arg",
"transcript": "ENST00000911775.1",
"protein_id": "ENSP00000581834.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911775.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3065A>G",
"hgvs_p": "p.Lys1022Arg",
"transcript": "ENST00000888749.1",
"protein_id": "ENSP00000558808.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3065,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888749.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3056A>G",
"hgvs_p": "p.Lys1019Arg",
"transcript": "ENST00000911780.1",
"protein_id": "ENSP00000581839.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3056,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911780.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.3044A>G",
"hgvs_p": "p.Lys1015Arg",
"transcript": "ENST00000888754.1",
"protein_id": "ENSP00000558813.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3044,
"cds_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485608.5"
}
],
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"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": 0.38570287823677063,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.1524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.482,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002525.3",
"gene_symbol": "NRDC",
"hgnc_id": 7995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Lys1091Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625138.1",
"gene_symbol": "OSBPL9",
"hgnc_id": 16386,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.390+2844T>C",
"hgvs_p": null
}
],
"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
}