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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: 1-17422723-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17422723&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RCC2",
"hgnc_id": 30297,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 0,
"transcript": "NM_018715.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_score": 0,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.9873,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9832776784896851,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018715.4",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375436.9",
"protein_coding": true,
"protein_id": "NP_061185.1",
"strand": false,
"transcript": "NM_018715.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000375436.9",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018715.4",
"protein_coding": true,
"protein_id": "ENSP00000364585.4",
"strand": false,
"transcript": "ENST00000375436.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375433.3",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364582.3",
"strand": false,
"transcript": "ENST00000375433.3",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 548,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1647,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927104.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597163.1",
"strand": false,
"transcript": "ENST00000927104.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136204.3",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129676.1",
"strand": false,
"transcript": "NM_001136204.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4026,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927084.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597143.1",
"strand": false,
"transcript": "ENST00000927084.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4036,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1569,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927093.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597152.1",
"strand": false,
"transcript": "ENST00000927093.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 521,
"aa_ref": "H",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1566,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927109.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597169.1",
"strand": false,
"transcript": "ENST00000927109.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 519,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1560,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927087.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597145.1",
"strand": false,
"transcript": "ENST00000927087.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 519,
"aa_ref": "H",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1560,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927088.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597146.1",
"strand": false,
"transcript": "ENST00000927088.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 519,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1560,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927099.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597157.1",
"strand": false,
"transcript": "ENST00000927099.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1536,
"cds_start": 637,
"consequences": [
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],
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"exon_rank": 4,
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"feature": "ENST00000927100.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597158.1",
"strand": false,
"transcript": "ENST00000927100.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000878232.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548291.1",
"strand": false,
"transcript": "ENST00000878232.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1491,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927098.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597156.1",
"strand": false,
"transcript": "ENST00000927098.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 720,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927086.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.His165Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597144.1",
"strand": false,
"transcript": "ENST00000927086.1",
"transcript_support_level": null
},
{
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"aa_length": 474,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1425,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927095.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.His165Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597154.1",
"strand": false,
"transcript": "ENST00000927095.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 444,
"aa_ref": "H",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1335,
"cds_start": 403,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927094.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.403C>T",
"hgvs_p": "p.His135Tyr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597153.1",
"strand": false,
"transcript": "ENST00000927094.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 688,
"cds_end": null,
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"cds_start": 637,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000927106.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597165.1",
"strand": false,
"transcript": "ENST00000927106.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 1131,
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"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927092.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.His213Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597151.1",
"strand": false,
"transcript": "ENST00000927092.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927091.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.524-432C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597150.1",
"strand": false,
"transcript": "ENST00000927091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927089.1",
"gene_hgnc_id": 30297,
"gene_symbol": "RCC2",
"hgvs_c": "c.523+2818C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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}