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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: 3-107747993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=107747993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 107747993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142568.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "NM_001142568.3",
"protein_id": "NP_001136040.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325805.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142568.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000325805.13",
"protein_id": "ENSP00000319974.8",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142568.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325805.13"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000415149.6",
"protein_id": "ENSP00000408358.2",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415149.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000416476.6",
"protein_id": "ENSP00000403860.2",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 628,
"cds_start": 779,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416476.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896804.1",
"protein_id": "ENSP00000566863.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 980,
"cds_start": 779,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896804.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000930766.1",
"protein_id": "ENSP00000600825.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 980,
"cds_start": 779,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930766.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896800.1",
"protein_id": "ENSP00000566859.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896800.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896801.1",
"protein_id": "ENSP00000566860.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896801.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896802.1",
"protein_id": "ENSP00000566861.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896802.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000971821.1",
"protein_id": "ENSP00000641880.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971821.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000971824.1",
"protein_id": "ENSP00000641883.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971824.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000971826.1",
"protein_id": "ENSP00000641885.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 941,
"cds_start": 779,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971826.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "NM_020235.7",
"protein_id": "NP_064620.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020235.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000406780.5",
"protein_id": "ENSP00000385530.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406780.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896798.1",
"protein_id": "ENSP00000566857.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896798.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896799.1",
"protein_id": "ENSP00000566858.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896799.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896803.1",
"protein_id": "ENSP00000566862.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896803.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896805.1",
"protein_id": "ENSP00000566864.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896805.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000896806.1",
"protein_id": "ENSP00000566865.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896806.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000971822.1",
"protein_id": "ENSP00000641881.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971822.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000971823.1",
"protein_id": "ENSP00000641882.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 911,
"cds_start": 779,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971823.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000402543.5",
"protein_id": "ENSP00000385317.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 891,
"cds_start": 779,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402543.5"
},
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{
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{
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],
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"dbsnp": "rs150121801",
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"hom_count_reference_population": 28,
"allele_count_reference_population": 2943,
"gnomad_exomes_af": 0.00190071,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.003517746925354004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.0768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.46,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001142568.3",
"gene_symbol": "BBX",
"hgnc_id": 14422,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}