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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: 10-102402252-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102402252&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102402252,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001077494.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "NM_001322934.2",
"protein_id": "NP_001309863.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000661543.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322934.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "ENST00000661543.1",
"protein_id": "ENSP00000499294.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001322934.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661543.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "ENST00000369966.8",
"protein_id": "ENSP00000358983.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369966.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "ENST00000189444.11",
"protein_id": "ENSP00000189444.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000189444.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "ENST00000428099.6",
"protein_id": "ENSP00000410256.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428099.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "NM_001077494.3",
"protein_id": "NP_001070962.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077494.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "ENST00000901568.1",
"protein_id": "ENSP00000571627.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901568.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly",
"transcript": "ENST00000901574.1",
"protein_id": "ENSP00000571633.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 900,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901574.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2453C>G",
"hgvs_p": "p.Ala818Gly",
"transcript": "NM_001322935.1",
"protein_id": "NP_001309864.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 858,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322935.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2453C>G",
"hgvs_p": "p.Ala818Gly",
"transcript": "ENST00000901572.1",
"protein_id": "ENSP00000571631.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 858,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901572.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2453C>G",
"hgvs_p": "p.Ala818Gly",
"transcript": "ENST00000901573.1",
"protein_id": "ENSP00000571632.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 858,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901573.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2453C>G",
"hgvs_p": "p.Ala818Gly",
"transcript": "ENST00000941747.1",
"protein_id": "ENSP00000611806.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 858,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2660-3C>G",
"hgvs_p": null,
"transcript": "ENST00000901571.1",
"protein_id": "ENSP00000571630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "NM_001261403.3",
"protein_id": "NP_001248332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261403.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "NM_001288724.1",
"protein_id": "NP_001275653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "NM_002502.6",
"protein_id": "NP_002493.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002502.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "ENST00000652277.1",
"protein_id": "ENSP00000498308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2579-3C>G",
"hgvs_p": null,
"transcript": "ENST00000901570.1",
"protein_id": "ENSP00000571629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2546-3C>G",
"hgvs_p": null,
"transcript": "ENST00000901575.1",
"protein_id": "ENSP00000571634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": null,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2516-3C>G",
"hgvs_p": null,
"transcript": "ENST00000941742.1",
"protein_id": "ENSP00000611801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2516-3C>G",
"hgvs_p": null,
"transcript": "ENST00000941744.1",
"protein_id": "ENSP00000611803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2516-3C>G",
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],
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"dbsnp": "rs371190206",
"frequency_reference_population": 0.00005669884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000592911,
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"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.23739278316497803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.800000011920929,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.0823,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.15,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.93283549970571,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001077494.3",
"gene_symbol": "NFKB2",
"hgnc_id": 7795,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2579C>G",
"hgvs_p": "p.Ala860Gly"
}
],
"clinvar_disease": " 10, common variable,Immunodeficiency,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Immunodeficiency, common variable, 10|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}