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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: 5-134138075-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134138075&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF7",
"hgnc_id": 11639,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001346425.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 129,
"alphamissense_prediction": null,
"alphamissense_score": 0.0806,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "5",
"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": 0.06527554988861084,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1155,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003202.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000342854.10",
"protein_coding": true,
"protein_id": "NP_003193.2",
"strand": true,
"transcript": "NM_003202.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1155,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000342854.10",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003202.5",
"protein_coding": true,
"protein_id": "ENSP00000340347.5",
"strand": true,
"transcript": "ENST00000342854.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 269,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 192,
"cds_end": null,
"cds_length": 810,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395023.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378469.1",
"strand": true,
"transcript": "ENST00000395023.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 269,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 192,
"cds_end": null,
"cds_length": 810,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000518915.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430179.1",
"strand": true,
"transcript": "ENST00000518915.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 268,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 210,
"cds_end": null,
"cds_length": 807,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378560.8",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367822.4",
"strand": true,
"transcript": "ENST00000378560.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 481,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1446,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395029.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378472.1",
"strand": true,
"transcript": "ENST00000395029.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 415,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1248,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346425.2",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333354.1",
"strand": true,
"transcript": "NM_001346425.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 365,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1098,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851078.1",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521137.1",
"strand": true,
"transcript": "ENST00000851078.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 210,
"cds_end": null,
"cds_length": 903,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522375.6",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427870.2",
"strand": true,
"transcript": "ENST00000522375.6",
"transcript_support_level": 4
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 204,
"cds_end": null,
"cds_length": 846,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001346450.2",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333379.1",
"strand": true,
"transcript": "NM_001346450.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 269,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 204,
"cds_end": null,
"cds_length": 810,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001134851.4",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128323.2",
"strand": true,
"transcript": "NM_001134851.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 269,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 204,
"cds_end": null,
"cds_length": 810,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_201632.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963963.1",
"strand": true,
"transcript": "NM_201632.5",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 438,
"cds_end": null,
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"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_213648.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998813.1",
"strand": true,
"transcript": "NM_213648.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 269,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 441,
"cds_end": null,
"cds_length": 810,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000520958.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429547.1",
"strand": true,
"transcript": "ENST00000520958.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
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"aa_length": 268,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 204,
"cds_end": null,
"cds_length": 807,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_201634.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963965.1",
"strand": true,
"transcript": "NM_201634.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 244,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 156,
"cds_end": null,
"cds_length": 735,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001366502.2",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353431.1",
"strand": true,
"transcript": "NM_001366502.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 166,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 210,
"cds_end": null,
"cds_length": 503,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000517851.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000429946.1",
"strand": true,
"transcript": "ENST00000517851.5",
"transcript_support_level": 4
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 539,
"cdna_start": 210,
"cds_end": null,
"cds_length": 442,
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"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000521639.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427782.1",
"strand": true,
"transcript": "ENST00000521639.5",
"transcript_support_level": 4
},
{
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"aa_ref": "P",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 547,
"cdna_start": 156,
"cds_end": null,
"cds_length": 429,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000519037.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429696.1",
"strand": true,
"transcript": "ENST00000519037.5",
"transcript_support_level": 4
},
{
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"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 329,
"cds_end": null,
"cds_length": 368,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000518887.5",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430617.1",
"strand": true,
"transcript": "ENST00000518887.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1383,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006714678.4",
"gene_hgnc_id": 11639,
"gene_symbol": "TCF7",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714741.1",
"strand": true,
"transcript": "XM_006714678.4",
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{
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{
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],
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}
]
}