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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: 1-16591967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16591967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16591967,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001405667.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405666.3",
"protein_id": "NP_001392595.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1087,
"cds_start": 55,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000713538.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405666.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "ENST00000430580.6",
"protein_id": "ENSP00000474456.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 1139,
"cds_start": 55,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430580.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405667.2",
"protein_id": "NP_001392596.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1153,
"cds_start": 55,
"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": "NM_001405667.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405680.2",
"protein_id": "NP_001392609.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1150,
"cds_start": 55,
"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": "NM_001405680.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405681.2",
"protein_id": "NP_001392610.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1150,
"cds_start": 55,
"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": "NM_001405681.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405682.2",
"protein_id": "NP_001392611.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1150,
"cds_start": 55,
"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": "NM_001405682.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405668.2",
"protein_id": "NP_001392597.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405668.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405669.2",
"protein_id": "NP_001392598.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405669.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405670.2",
"protein_id": "NP_001392599.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405670.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405671.2",
"protein_id": "NP_001392600.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405671.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405672.2",
"protein_id": "NP_001392601.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405672.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405673.2",
"protein_id": "NP_001392602.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405673.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405674.2",
"protein_id": "NP_001392603.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405674.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405675.2",
"protein_id": "NP_001392604.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405675.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405676.2",
"protein_id": "NP_001392605.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405676.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405677.2",
"protein_id": "NP_001392606.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405677.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405678.2",
"protein_id": "NP_001392607.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1125,
"cds_start": 55,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405678.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405683.2",
"protein_id": "NP_001392612.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1122,
"cds_start": 55,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405683.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405684.2",
"protein_id": "NP_001392613.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1122,
"cds_start": 55,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405684.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405685.2",
"protein_id": "NP_001392614.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1122,
"cds_start": 55,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405685.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405686.2",
"protein_id": "NP_001392615.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1122,
"cds_start": 55,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405686.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBPF1",
"gene_hgnc_id": 26088,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Glu19Lys",
"transcript": "NM_001405687.2",
"protein_id": "NP_001392616.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1122,
"cds_start": 55,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405687.2"
},
{
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],
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"dbsnp": "rs770962092",
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"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
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"computational_score_selected": 0.13875433802604675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.2797,
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.036,
"phylop100way_prediction": "Benign",
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"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001405667.2",
"gene_symbol": "NBPF1",
"hgnc_id": 26088,
"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000607700.2",
"gene_symbol": "ENSG00000271732",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"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
}