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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: 9-89325666-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89325666&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 89325666,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024077.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "NM_024077.5",
"protein_id": "NP_076982.3",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 854,
"cds_start": 422,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375807.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024077.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000375807.8",
"protein_id": "ENSP00000364965.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 854,
"cds_start": 422,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024077.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375807.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Ala68Val",
"transcript": "ENST00000339901.8",
"protein_id": "ENSP00000364959.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 781,
"cds_start": 203,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339901.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "n.3467C>T",
"hgvs_p": null,
"transcript": "ENST00000470305.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470305.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000960321.1",
"protein_id": "ENSP00000630380.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 854,
"cds_start": 422,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960321.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "NM_001282688.2",
"protein_id": "NP_001269617.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 853,
"cds_start": 422,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282688.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000936002.1",
"protein_id": "ENSP00000606061.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 853,
"cds_start": 422,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936002.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000858961.1",
"protein_id": "ENSP00000529020.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 852,
"cds_start": 422,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858961.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000858959.1",
"protein_id": "ENSP00000529018.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 824,
"cds_start": 422,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858959.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "NM_001354697.2",
"protein_id": "NP_001341626.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 816,
"cds_start": 422,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354697.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "NM_001354696.2",
"protein_id": "NP_001341625.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 815,
"cds_start": 422,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354696.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000858958.1",
"protein_id": "ENSP00000529017.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 815,
"cds_start": 422,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858958.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000935999.1",
"protein_id": "ENSP00000606058.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 815,
"cds_start": 422,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935999.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000960322.1",
"protein_id": "ENSP00000630381.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 815,
"cds_start": 305,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960322.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000936004.1",
"protein_id": "ENSP00000606063.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 807,
"cds_start": 422,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936004.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Ala73Val",
"transcript": "NM_001282690.1",
"protein_id": "NP_001269619.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 786,
"cds_start": 218,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282690.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Ala73Val",
"transcript": "ENST00000534113.6",
"protein_id": "ENSP00000436650.2",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 786,
"cds_start": 218,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534113.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000960323.1",
"protein_id": "ENSP00000630382.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 786,
"cds_start": 422,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960323.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "NM_001354698.2",
"protein_id": "NP_001341627.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 785,
"cds_start": 422,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354698.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000858960.1",
"protein_id": "ENSP00000529019.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 785,
"cds_start": 422,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858960.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Ala68Val",
"transcript": "NM_001282689.2",
"protein_id": "NP_001269618.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 781,
"cds_start": 203,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282689.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SECISBP2",
"gene_hgnc_id": 30972,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000936000.1",
"protein_id": "ENSP00000606059.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 776,
"cds_start": 305,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936000.1"
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{
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],
"gene_symbol": "SECISBP2",
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"dbsnp": "rs62638730",
"frequency_reference_population": 0.0016374369,
"hom_count_reference_population": 38,
"allele_count_reference_population": 2643,
"gnomad_exomes_af": 0.000935797,
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"gnomad_exomes_ac": 1368,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.002131819725036621,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.0986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_024077.5",
"gene_symbol": "SECISBP2",
"hgnc_id": 30972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}