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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: 3-3140627-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3140627&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRNT1",
"hgnc_id": 17341,
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_182916.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9262,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9903777837753296,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_182916.3",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251607.11",
"protein_coding": true,
"protein_id": "NP_886552.3",
"strand": true,
"transcript": "NM_182916.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000251607.11",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182916.3",
"protein_coding": true,
"protein_id": "ENSP00000251607.6",
"strand": true,
"transcript": "ENST00000251607.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1245,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000280591.10",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280591.6",
"strand": true,
"transcript": "ENST00000280591.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1422,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698413.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.577A>C",
"hgvs_p": "p.Thr193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513706.1",
"strand": true,
"transcript": "ENST00000698413.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1422,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000698414.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.577A>C",
"hgvs_p": "p.Thr193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513707.1",
"strand": true,
"transcript": "ENST00000698414.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1422,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866264.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.577A>C",
"hgvs_p": "p.Thr193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536323.1",
"strand": true,
"transcript": "ENST00000866264.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1422,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925748.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.577A>C",
"hgvs_p": "p.Thr193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595807.1",
"strand": true,
"transcript": "ENST00000925748.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1422,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970528.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.577A>C",
"hgvs_p": "p.Thr193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640587.1",
"strand": true,
"transcript": "ENST00000970528.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367321.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354250.1",
"strand": true,
"transcript": "NM_001367321.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367322.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354251.1",
"strand": true,
"transcript": "NM_001367322.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367323.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354252.1",
"strand": true,
"transcript": "NM_001367323.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 545,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698406.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513700.1",
"strand": true,
"transcript": "ENST00000698406.1",
"transcript_support_level": null
},
{
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"aa_length": 434,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7518,
"cdna_start": 1533,
"cds_end": null,
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"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698412.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513705.1",
"strand": true,
"transcript": "ENST00000698412.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 434,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866261.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536320.1",
"strand": true,
"transcript": "ENST00000866261.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 434,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866262.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536321.1",
"strand": true,
"transcript": "ENST00000866262.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866263.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536322.1",
"strand": true,
"transcript": "ENST00000866263.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925750.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595809.1",
"strand": true,
"transcript": "ENST00000925750.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 1082,
"cds_end": null,
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"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970529.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640588.1",
"strand": true,
"transcript": "ENST00000970529.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 538,
"cds_end": null,
"cds_length": 1245,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302946.2",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289875.2",
"strand": true,
"transcript": "NM_001302946.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047448240.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304196.1",
"strand": true,
"transcript": "XM_047448240.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1305,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047448241.1",
"gene_hgnc_id": 17341,
"gene_symbol": "TRNT1",
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Thr154Pro",
"intron_rank": null,
"intron_rank_end": null,
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