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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: 9-128178855-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128178855&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIZ1",
"hgnc_id": 16744,
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Ala481Val",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001257975.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1368,
"alphamissense_prediction": null,
"alphamissense_score": 0.0846,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "Dystonic disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0034513771533966064,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001131016.2",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372938.10",
"protein_coding": true,
"protein_id": "NP_001124488.1",
"strand": false,
"transcript": "NM_001131016.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000372938.10",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001131016.2",
"protein_coding": true,
"protein_id": "ENSP00000362029.5",
"strand": false,
"transcript": "ENST00000372938.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000415526.5",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398011.1",
"strand": false,
"transcript": "ENST00000415526.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 818,
"aa_ref": "A",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000372954.5",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Ala371Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362045.1",
"strand": false,
"transcript": "ENST00000372954.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 954,
"aa_ref": "A",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001257975.2",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Ala481Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244904.1",
"strand": false,
"transcript": "NM_001257975.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 954,
"aa_ref": "A",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538431.5",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Ala481Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439244.2",
"strand": false,
"transcript": "ENST00000538431.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 954,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866508.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536567.1",
"strand": false,
"transcript": "ENST00000866508.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 904,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2715,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866505.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536564.1",
"strand": false,
"transcript": "ENST00000866505.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_012127.3",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036259.2",
"strand": false,
"transcript": "NM_012127.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000634901.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489425.1",
"strand": false,
"transcript": "ENST00000634901.1",
"transcript_support_level": 5
},
{
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"aa_length": 898,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866500.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536559.1",
"strand": false,
"transcript": "ENST00000866500.1",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 2809,
"cds_end": null,
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"cds_start": 1352,
"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000866501.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000536560.1",
"strand": false,
"transcript": "ENST00000866501.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000866510.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536569.1",
"strand": false,
"transcript": "ENST00000866510.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 2697,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866511.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536570.1",
"strand": false,
"transcript": "ENST00000866511.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1832,
"cds_end": null,
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"cds_start": 1352,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866512.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536571.1",
"strand": false,
"transcript": "ENST00000866512.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1545,
"cds_end": null,
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"cds_start": 1352,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866513.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536572.1",
"strand": false,
"transcript": "ENST00000866513.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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],
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"feature": "ENST00000965482.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635541.1",
"strand": false,
"transcript": "ENST00000965482.1",
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},
{
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"consequences": [
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],
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"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965485.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635544.1",
"strand": false,
"transcript": "ENST00000965485.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1518,
"cds_end": null,
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"cds_start": 1352,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965486.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635545.1",
"strand": false,
"transcript": "ENST00000965486.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 896,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866506.1",
"gene_hgnc_id": 16744,
"gene_symbol": "CIZ1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Ala451Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536565.1",
"strand": false,
"transcript": "ENST00000866506.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 874,
"aa_ref": "A",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2625,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866502.1",
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