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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: 5-178931702-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178931702&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZFP2",
"hgnc_id": 26138,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_030613.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF454-DT",
"hgnc_id": 55213,
"hgvs_c": "n.941+8350T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000789536.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9043,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2375061810016632,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_030613.4",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361362.7",
"protein_coding": true,
"protein_id": "NP_085116.2",
"strand": true,
"transcript": "NM_030613.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000361362.7",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030613.4",
"protein_coding": true,
"protein_id": "ENSP00000354453.2",
"strand": true,
"transcript": "ENST00000361362.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000523286.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430531.1",
"strand": true,
"transcript": "ENST00000523286.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000520301.5",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430980.1",
"strand": true,
"transcript": "ENST00000520301.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896567.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566626.1",
"strand": true,
"transcript": "ENST00000896567.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896568.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566627.1",
"strand": true,
"transcript": "ENST00000896568.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896569.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566628.1",
"strand": true,
"transcript": "ENST00000896569.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896570.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566629.1",
"strand": true,
"transcript": "ENST00000896570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896571.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566630.1",
"strand": true,
"transcript": "ENST00000896571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896572.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566631.1",
"strand": true,
"transcript": "ENST00000896572.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896573.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566632.1",
"strand": true,
"transcript": "ENST00000896573.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896574.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566633.1",
"strand": true,
"transcript": "ENST00000896574.1",
"transcript_support_level": null
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896575.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566634.1",
"strand": true,
"transcript": "ENST00000896575.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 461,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 993,
"cds_end": null,
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"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896576.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566635.1",
"strand": true,
"transcript": "ENST00000896576.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896577.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566636.1",
"strand": true,
"transcript": "ENST00000896577.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 461,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896578.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566637.1",
"strand": true,
"transcript": "ENST00000896578.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 461,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1082,
"cds_end": null,
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"cds_start": 389,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916756.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586815.1",
"strand": true,
"transcript": "ENST00000916756.1",
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},
{
"aa_alt": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 908,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916757.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586816.1",
"strand": true,
"transcript": "ENST00000916757.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_start": 859,
"cds_end": null,
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"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916758.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586817.1",
"strand": true,
"transcript": "ENST00000916758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1386,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916759.1",
"gene_hgnc_id": 26138,
"gene_symbol": "ZFP2",
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Tyr130Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586818.1",
"strand": true,
"transcript": "ENST00000916759.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1386,
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