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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: 7-100631041-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100631041&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TFR2",
"hgnc_id": 11762,
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003227.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124901709",
"hgnc_id": null,
"hgvs_c": "n.434-115C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "XR_007060454.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7035,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8067700862884521,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 801,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_003227.4",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223051.8",
"protein_coding": true,
"protein_id": "NP_003218.2",
"strand": false,
"transcript": "NM_003227.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 801,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000223051.8",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003227.4",
"protein_coding": true,
"protein_id": "ENSP00000223051.3",
"strand": false,
"transcript": "ENST00000223051.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 833,
"aa_ref": "G",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855275.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1214G>T",
"hgvs_p": "p.Gly405Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525334.1",
"strand": false,
"transcript": "ENST00000855275.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 832,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855257.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525316.1",
"strand": false,
"transcript": "ENST00000855257.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 829,
"aa_ref": "G",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1202,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855265.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Gly401Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525324.1",
"strand": false,
"transcript": "ENST00000855265.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855221.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525280.1",
"strand": false,
"transcript": "ENST00000855221.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855229.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525288.1",
"strand": false,
"transcript": "ENST00000855229.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855234.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525293.1",
"strand": false,
"transcript": "ENST00000855234.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855277.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525336.1",
"strand": false,
"transcript": "ENST00000855277.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 815,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855238.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525297.1",
"strand": false,
"transcript": "ENST00000855238.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 815,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855259.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525318.1",
"strand": false,
"transcript": "ENST00000855259.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 815,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1160,
"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "ENST00000855263.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1160G>T",
"hgvs_p": "p.Gly387Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525322.1",
"strand": false,
"transcript": "ENST00000855263.1",
"transcript_support_level": null
},
{
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"aa_length": 814,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855226.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1157G>T",
"hgvs_p": "p.Gly386Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525285.1",
"strand": false,
"transcript": "ENST00000855226.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 814,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855236.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1157G>T",
"hgvs_p": "p.Gly386Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525295.1",
"strand": false,
"transcript": "ENST00000855236.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 810,
"aa_ref": "G",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855230.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Gly382Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525289.1",
"strand": false,
"transcript": "ENST00000855230.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 810,
"aa_ref": "G",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855252.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Gly382Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525311.1",
"strand": false,
"transcript": "ENST00000855252.1",
"transcript_support_level": null
},
{
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"aa_length": 810,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2433,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855270.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525329.1",
"strand": false,
"transcript": "ENST00000855270.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 801,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000462107.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420525.1",
"strand": false,
"transcript": "ENST00000462107.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 801,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855220.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Gly373Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525279.1",
"strand": false,
"transcript": "ENST00000855220.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 800,
"aa_ref": "G",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855262.1",
"gene_hgnc_id": 11762,
"gene_symbol": "TFR2",
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Gly372Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525321.1",
"strand": false,
"transcript": "ENST00000855262.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 800,
"aa_ref": "G",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1115,
"consequences": [
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