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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: 19-40705140-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40705140&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40705140,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024876.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "NM_024876.4",
"protein_id": "NP_079152.3",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324464.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024876.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000324464.8",
"protein_id": "ENSP00000315118.3",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024876.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324464.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Trp",
"transcript": "ENST00000243583.10",
"protein_id": "ENSP00000243583.5",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 503,
"cds_start": 409,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243583.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "ENST00000871658.1",
"protein_id": "ENSP00000541717.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 559,
"cds_start": 577,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871658.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000594720.6",
"protein_id": "ENSP00000470876.2",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594720.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000601967.6",
"protein_id": "ENSP00000470916.2",
"transcript_support_level": 3,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601967.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000677018.1",
"protein_id": "ENSP00000503480.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677018.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000678404.1",
"protein_id": "ENSP00000503944.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678404.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000678419.1",
"protein_id": "ENSP00000504085.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678419.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000678467.1",
"protein_id": "ENSP00000504072.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678467.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000679130.1",
"protein_id": "ENSP00000504845.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679130.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871645.1",
"protein_id": "ENSP00000541704.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871645.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871646.1",
"protein_id": "ENSP00000541705.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871646.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871649.1",
"protein_id": "ENSP00000541708.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871649.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871650.1",
"protein_id": "ENSP00000541709.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871650.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871651.1",
"protein_id": "ENSP00000541710.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871651.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871652.1",
"protein_id": "ENSP00000541711.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871652.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871653.1",
"protein_id": "ENSP00000541712.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871653.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871655.1",
"protein_id": "ENSP00000541714.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871655.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000871661.1",
"protein_id": "ENSP00000541720.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871661.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000915176.1",
"protein_id": "ENSP00000585235.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915176.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000946424.1",
"protein_id": "ENSP00000616483.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
"gene_symbol": "COQ8B",
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"dbsnp": "rs398122978",
"frequency_reference_population": 0.000014261921,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000123247,
"gnomad_genomes_af": 0.0000328494,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8316008448600769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3246,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.728,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_024876.4",
"gene_symbol": "COQ8B",
"hgnc_id": 19041,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp"
}
],
"clinvar_disease": " type 9,Inborn genetic diseases,Nephrotic syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:2 O:1",
"phenotype_combined": "Nephrotic syndrome, type 9|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}