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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: 7-45101573-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45101573&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBRG4",
"hgnc_id": 17443,
"hgvs_c": "c.1642G>T",
"hgvs_p": "p.Val548Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001261834.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0667,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03439551591873169,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004749.4",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258770.8",
"protein_coding": true,
"protein_id": "NP_004740.2",
"strand": false,
"transcript": "NM_004749.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000258770.8",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004749.4",
"protein_coding": true,
"protein_id": "ENSP00000258770.3",
"strand": false,
"transcript": "ENST00000258770.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 521,
"aa_ref": "V",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1279,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000361278.7",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Val427Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354992.3",
"strand": false,
"transcript": "ENST00000361278.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000495973.5",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "n.2898G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000495973.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "V",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001261834.2",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1642G>T",
"hgvs_p": "p.Val548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248763.1",
"strand": false,
"transcript": "NM_001261834.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000494076.5",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420597.1",
"strand": false,
"transcript": "ENST00000494076.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4796,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895097.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565156.1",
"strand": false,
"transcript": "ENST00000895097.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895098.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565157.1",
"strand": false,
"transcript": "ENST00000895098.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895106.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565165.1",
"strand": false,
"transcript": "ENST00000895106.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895109.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565168.1",
"strand": false,
"transcript": "ENST00000895109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895114.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565173.1",
"strand": false,
"transcript": "ENST00000895114.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895115.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565174.1",
"strand": false,
"transcript": "ENST00000895115.1",
"transcript_support_level": null
},
{
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"aa_length": 631,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934800.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604859.1",
"strand": false,
"transcript": "ENST00000934800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 4004,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934812.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604871.1",
"strand": false,
"transcript": "ENST00000934812.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 631,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967965.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638024.1",
"strand": false,
"transcript": "ENST00000967965.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967968.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638027.1",
"strand": false,
"transcript": "ENST00000967968.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 631,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967971.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638030.1",
"strand": false,
"transcript": "ENST00000967971.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"biotype": "protein_coding",
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"cdna_length": 2587,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1609,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967973.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Val537Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638032.1",
"strand": false,
"transcript": "ENST00000967973.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "V",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895108.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1570G>T",
"hgvs_p": "p.Val524Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565167.1",
"strand": false,
"transcript": "ENST00000895108.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "V",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000934796.1",
"gene_hgnc_id": 17443,
"gene_symbol": "TBRG4",
"hgvs_c": "c.1570G>T",
"hgvs_p": "p.Val524Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604855.1",
"strand": false,
"transcript": "ENST00000934796.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 616,
"aa_ref": "V",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1564,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895102.1",
"gene_hgnc_id": 17443,
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