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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: 8-144841679-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144841679&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF7",
"hgnc_id": 13139,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ala212Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001349809.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "COMMD5",
"hgnc_id": 17902,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000530332.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 92,
"alphamissense_prediction": null,
"alphamissense_score": 0.0757,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04125073552131653,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 667,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003416.4",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000532777.6",
"protein_coding": true,
"protein_id": "NP_003407.1",
"strand": true,
"transcript": "NM_003416.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 667,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000532777.6",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003416.4",
"protein_coding": true,
"protein_id": "ENSP00000432641.2",
"strand": true,
"transcript": "ENST00000532777.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 697,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2094,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000446747.7",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393260.2",
"strand": true,
"transcript": "ENST00000446747.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 812,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000528372.5",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432724.1",
"strand": true,
"transcript": "ENST00000528372.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000528017.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "n.4100C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528017.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 719,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 747,
"cds_end": null,
"cds_length": 2160,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000533314.6",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433630.2",
"strand": true,
"transcript": "ENST00000533314.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 707,
"aa_ref": "A",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2124,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349809.2",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ala212Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336738.1",
"strand": true,
"transcript": "NM_001349809.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 703,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2112,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349806.2",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Ala208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336735.1",
"strand": true,
"transcript": "NM_001349806.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 702,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 715,
"cds_end": null,
"cds_length": 2109,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349808.2",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ala207Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336737.1",
"strand": true,
"transcript": "NM_001349808.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 697,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 700,
"cds_end": null,
"cds_length": 2094,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282795.2",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269724.1",
"strand": true,
"transcript": "NM_001282795.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 697,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 860,
"cds_end": null,
"cds_length": 2094,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933365.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603424.1",
"strand": true,
"transcript": "ENST00000933365.1",
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},
{
"aa_alt": "V",
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"aa_length": 697,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 2094,
"cds_start": 605,
"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000955409.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625468.1",
"strand": true,
"transcript": "ENST00000955409.1",
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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,
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"cdna_start": 851,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000908822.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578881.1",
"strand": true,
"transcript": "ENST00000908822.1",
"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": 3398,
"cdna_start": 1387,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000908823.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578882.1",
"strand": true,
"transcript": "ENST00000908823.1",
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},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 880,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908825.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578884.1",
"strand": true,
"transcript": "ENST00000908825.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000908826.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578885.1",
"strand": true,
"transcript": "ENST00000908826.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 901,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": 5,
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"feature": "ENST00000908827.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578886.1",
"strand": true,
"transcript": "ENST00000908827.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908828.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578887.1",
"strand": true,
"transcript": "ENST00000908828.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 713,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000933362.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603421.1",
"strand": true,
"transcript": "ENST00000933362.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 2061,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000933364.1",
"gene_hgnc_id": 13139,
"gene_symbol": "ZNF7",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603423.1",
"strand": true,
"transcript": "ENST00000933364.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2061,
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