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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: 1-40735585-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40735585&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40735585,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000447388.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_014223.5",
"protein_id": "NP_055038.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": "ENST00000447388.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000447388.8",
"protein_id": "ENSP00000404427.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": "NM_014223.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000372654.5",
"protein_id": "ENSP00000361738.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000456393.6",
"protein_id": "ENSP00000408867.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Leu29Val",
"transcript": "XM_005270895.5",
"protein_id": "XP_005270952.4",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 544,
"cds_start": 85,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.85C>G",
"hgvs_p": "p.Leu29Val",
"transcript": "XM_006710658.4",
"protein_id": "XP_006710721.3",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 525,
"cds_start": 85,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-174C>G",
"hgvs_p": null,
"transcript": "ENST00000440226.7",
"protein_id": "ENSP00000414299.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_001308115.2",
"protein_id": "NP_001295044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000372652.5",
"protein_id": "ENSP00000361736.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_001142588.2",
"protein_id": "NP_001136060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000425457.6",
"protein_id": "ENSP00000396620.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
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"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000372651.5",
"protein_id": "ENSP00000361734.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_001142587.2",
"protein_id": "NP_001136059.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 334,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000372669.8",
"protein_id": "ENSP00000361754.4",
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},
{
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"intron_variant"
],
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"gene_symbol": "NFYC",
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"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_001142590.2",
"protein_id": "NP_001136062.1",
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"cds_start": -4,
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"mane_select": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
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"gene_symbol": "NFYC",
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"hgvs_c": "c.-8-3251C>G",
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"transcript": "ENST00000372653.5",
"protein_id": "ENSP00000361737.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "NFYC",
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"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "NM_001142589.2",
"protein_id": "NP_001136061.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000427410.6",
"protein_id": "ENSP00000408315.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "NFYC",
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"hgvs_c": "c.-8-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000453631.5",
"protein_id": "ENSP00000397647.1",
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},
{
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],
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"gene_symbol": "NFYC",
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},
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],
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"gene_symbol": "NFYC",
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"hgvs_c": "c.-158-16C>G",
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"transcript": "ENST00000534399.5",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "n.183-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000424419.6",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFYC",
"gene_hgnc_id": 7806,
"hgvs_c": "n.221-3251C>G",
"hgvs_p": null,
"transcript": "ENST00000467203.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
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{
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{
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],
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"dbsnp": "rs6702983",
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"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.528,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000447388.8",
"gene_symbol": "NFYC",
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"effects": [
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}