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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: 3-134191891-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134191891&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134191891,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001005861.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Ile325Val",
"transcript": "NM_002958.4",
"protein_id": "NP_002949.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 607,
"cds_start": 973,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000623711.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002958.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Ile325Val",
"transcript": "ENST00000623711.4",
"protein_id": "ENSP00000485095.1",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 607,
"cds_start": 973,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623711.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ile328Val",
"transcript": "ENST00000620660.4",
"protein_id": "ENSP00000478721.1",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 610,
"cds_start": 982,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620660.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Ile347Val",
"transcript": "ENST00000946535.1",
"protein_id": "ENSP00000616594.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 629,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946535.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.1030A>G",
"hgvs_p": "p.Ile344Val",
"transcript": "ENST00000912304.1",
"protein_id": "ENSP00000582363.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 626,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912304.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ile328Val",
"transcript": "NM_001005861.3",
"protein_id": "NP_001005861.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 610,
"cds_start": 982,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005861.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ile328Val",
"transcript": "ENST00000907584.1",
"protein_id": "ENSP00000577643.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 610,
"cds_start": 982,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907584.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ile328Val",
"transcript": "ENST00000912303.1",
"protein_id": "ENSP00000582362.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 610,
"cds_start": 982,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912303.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Ile325Val",
"transcript": "ENST00000907585.1",
"protein_id": "ENSP00000577644.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 607,
"cds_start": 973,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907585.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ile328Val",
"transcript": "ENST00000946538.1",
"protein_id": "ENSP00000616597.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 581,
"cds_start": 982,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946538.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Ile325Val",
"transcript": "ENST00000912307.1",
"protein_id": "ENSP00000582366.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 578,
"cds_start": 973,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912307.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Ile265Val",
"transcript": "ENST00000946539.1",
"protein_id": "ENSP00000616598.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 555,
"cds_start": 793,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946539.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Ile265Val",
"transcript": "ENST00000946530.1",
"protein_id": "ENSP00000616589.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 547,
"cds_start": 793,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946530.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Ile262Val",
"transcript": "ENST00000946529.1",
"protein_id": "ENSP00000616588.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 544,
"cds_start": 784,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946529.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000946532.1",
"protein_id": "ENSP00000616591.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 525,
"cds_start": 727,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946532.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "ENST00000946540.1",
"protein_id": "ENSP00000616599.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 507,
"cds_start": 673,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946540.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Ile180Val",
"transcript": "ENST00000946531.1",
"protein_id": "ENSP00000616590.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 462,
"cds_start": 538,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946531.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000946541.1",
"protein_id": "ENSP00000616600.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 388,
"cds_start": 316,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.890-2968A>G",
"hgvs_p": null,
"transcript": "ENST00000912305.1",
"protein_id": "ENSP00000582364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
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"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.644-2968A>G",
"hgvs_p": null,
"transcript": "ENST00000946536.1",
"protein_id": "ENSP00000616595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.590-2968A>G",
"hgvs_p": null,
"transcript": "ENST00000912306.1",
"protein_id": "ENSP00000582365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RYK",
"gene_hgnc_id": 10481,
"hgvs_c": "c.644-8820A>G",
"hgvs_p": null,
"transcript": "ENST00000946537.1",
"protein_id": "ENSP00000616596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946537.1"
},
{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}