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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: 11-71435575-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71435575&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 71435575,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001425107.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "NM_001360.3",
"protein_id": "NP_001351.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355527.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000355527.8",
"protein_id": "ENSP00000347717.4",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001360.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355527.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000407721.6",
"protein_id": "ENSP00000384739.2",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407721.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Gly215Arg",
"transcript": "ENST00000685320.1",
"protein_id": "ENSP00000509319.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 280,
"cds_start": 643,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.318+2237G>C",
"hgvs_p": null,
"transcript": "ENST00000534795.5",
"protein_id": "ENSP00000432256.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534795.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1279G>C",
"hgvs_p": "p.Gly427Arg",
"transcript": "NM_001425107.1",
"protein_id": "NP_001412036.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 492,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425107.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1279G>C",
"hgvs_p": "p.Gly427Arg",
"transcript": "ENST00000682708.1",
"protein_id": "ENSP00000506866.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 492,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682708.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Gly422Arg",
"transcript": "NM_001425108.1",
"protein_id": "NP_001412037.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 487,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425108.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Gly422Arg",
"transcript": "ENST00000683287.1",
"protein_id": "ENSP00000507607.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 487,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683287.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "NM_001163817.2",
"protein_id": "NP_001157289.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163817.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "NM_001425109.1",
"protein_id": "NP_001412038.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425109.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "NM_001425110.1",
"protein_id": "NP_001412039.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425110.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000525346.6",
"protein_id": "ENSP00000435707.3",
"transcript_support_level": 4,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525346.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000526780.6",
"protein_id": "ENSP00000435668.2",
"transcript_support_level": 2,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526780.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000864862.1",
"protein_id": "ENSP00000534921.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864862.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000864863.1",
"protein_id": "ENSP00000534922.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864863.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000864864.1",
"protein_id": "ENSP00000534923.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864864.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000864865.1",
"protein_id": "ENSP00000534924.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864865.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000864866.1",
"protein_id": "ENSP00000534925.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864866.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000938772.1",
"protein_id": "ENSP00000608831.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938772.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000938773.1",
"protein_id": "ENSP00000608832.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938773.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR7",
"gene_hgnc_id": 2860,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"transcript": "ENST00000938775.1",
"protein_id": "ENSP00000608834.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 475,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"frequency_reference_population": 0.000019244426,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000205672,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9917635917663574,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.971,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9936,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.89,
"phylop100way_prediction": "Uncertain_significance",
"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": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001425107.1",
"gene_symbol": "DHCR7",
"hgnc_id": 2860,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1279G>C",
"hgvs_p": "p.Gly427Arg"
}
],
"clinvar_disease": "DHCR7-related disorder,Smith-Lemli-Opitz syndrome",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "Smith-Lemli-Opitz syndrome|DHCR7-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}