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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: 14-91792539-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91792539&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TC2N",
"hgnc_id": 19859,
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_152332.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 100,
"alphamissense_prediction": null,
"alphamissense_score": 0.3437,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9027144908905029,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001128596.3",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000435962.7",
"protein_coding": true,
"protein_id": "NP_001122068.2",
"strand": false,
"transcript": "NM_001128596.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000435962.7",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128596.3",
"protein_coding": true,
"protein_id": "ENSP00000387882.2",
"strand": false,
"transcript": "ENST00000435962.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340892.9",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343199.5",
"strand": false,
"transcript": "ENST00000340892.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000360594.9",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353802.5",
"strand": false,
"transcript": "ENST00000360594.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4968,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001128595.3",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122067.2",
"strand": false,
"transcript": "NM_001128595.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_152332.6",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689545.2",
"strand": false,
"transcript": "NM_152332.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891182.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561241.1",
"strand": false,
"transcript": "ENST00000891182.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891183.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561242.1",
"strand": false,
"transcript": "ENST00000891183.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891185.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561244.1",
"strand": false,
"transcript": "ENST00000891185.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891186.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561245.1",
"strand": false,
"transcript": "ENST00000891186.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891187.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561246.1",
"strand": false,
"transcript": "ENST00000891187.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891188.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561247.1",
"strand": false,
"transcript": "ENST00000891188.1",
"transcript_support_level": null
},
{
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2493,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891189.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561248.1",
"strand": false,
"transcript": "ENST00000891189.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937661.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607720.1",
"strand": false,
"transcript": "ENST00000937661.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971252.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641311.1",
"strand": false,
"transcript": "ENST00000971252.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971254.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641313.1",
"strand": false,
"transcript": "ENST00000971254.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971255.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641314.1",
"strand": false,
"transcript": "ENST00000971255.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971256.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641315.1",
"strand": false,
"transcript": "ENST00000971256.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 490,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971257.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641316.1",
"strand": false,
"transcript": "ENST00000971257.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971258.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Thr292Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641317.1",
"strand": false,
"transcript": "ENST00000971258.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 490,
"aa_ref": "T",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1473,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971259.1",
"gene_hgnc_id": 19859,
"gene_symbol": "TC2N",
"hgvs_c": "c.875C>T",
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