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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: 16-89873812-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89873812&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF25",
"hgnc_id": 29181,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014972.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.0788,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07022818922996521,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 676,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 221,
"cds_end": null,
"cds_length": 2031,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_014972.3",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263346.13",
"protein_coding": true,
"protein_id": "NP_055787.1",
"strand": true,
"transcript": "NM_014972.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 676,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 221,
"cds_end": null,
"cds_length": 2031,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000263346.13",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014972.3",
"protein_coding": true,
"protein_id": "ENSP00000263346.8",
"strand": true,
"transcript": "ENST00000263346.13",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 215,
"cds_end": null,
"cds_length": 2232,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856681.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526740.1",
"strand": true,
"transcript": "ENST00000856681.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 230,
"cds_end": null,
"cds_length": 2175,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940255.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610314.1",
"strand": true,
"transcript": "ENST00000940255.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 720,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 219,
"cds_end": null,
"cds_length": 2163,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856680.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526739.1",
"strand": true,
"transcript": "ENST00000856680.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2046,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856677.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526736.1",
"strand": true,
"transcript": "ENST00000856677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 230,
"cds_end": null,
"cds_length": 2028,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943600.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613659.1",
"strand": true,
"transcript": "ENST00000943600.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 674,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 230,
"cds_end": null,
"cds_length": 2025,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943601.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613660.1",
"strand": true,
"transcript": "ENST00000943601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 672,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 220,
"cds_end": null,
"cds_length": 2019,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943606.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613665.1",
"strand": true,
"transcript": "ENST00000943606.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 666,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 228,
"cds_end": null,
"cds_length": 2001,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856679.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526738.1",
"strand": true,
"transcript": "ENST00000856679.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 661,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 242,
"cds_end": null,
"cds_length": 1986,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856678.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526737.1",
"strand": true,
"transcript": "ENST00000856678.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 660,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 199,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
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"feature": "ENST00000943607.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613666.1",
"strand": true,
"transcript": "ENST00000943607.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 247,
"cds_end": null,
"cds_length": 1974,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
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"feature": "ENST00000943599.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613658.1",
"strand": true,
"transcript": "ENST00000943599.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 652,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 228,
"cds_end": null,
"cds_length": 1959,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
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"feature": "ENST00000943602.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613661.1",
"strand": true,
"transcript": "ENST00000943602.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1956,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943605.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613664.1",
"strand": true,
"transcript": "ENST00000943605.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 172,
"cds_end": null,
"cds_length": 1914,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940258.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610317.1",
"strand": true,
"transcript": "ENST00000940258.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 178,
"cds_end": null,
"cds_length": 1887,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940257.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610316.1",
"strand": true,
"transcript": "ENST00000940257.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943604.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613663.1",
"strand": true,
"transcript": "ENST00000943604.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 229,
"cds_end": null,
"cds_length": 1860,
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"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940256.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610315.1",
"strand": true,
"transcript": "ENST00000940256.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1623,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943603.1",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613662.1",
"strand": true,
"transcript": "ENST00000943603.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 264,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 797,
"cdna_start": 145,
"cds_end": null,
"cds_length": 797,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000568412.5",
"gene_hgnc_id": 29181,
"gene_symbol": "TCF25",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}