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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: 10-27155400-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27155400&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "MASTL",
"hgnc_id": 19042,
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001320757.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"hgvs_c": "c.-1190A>T",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000477432.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001172303.3",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375940.9",
"protein_coding": true,
"protein_id": "NP_001165774.1",
"strand": true,
"transcript": "NM_001172303.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375940.9",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001172303.3",
"protein_coding": true,
"protein_id": "ENSP00000365107.5",
"strand": true,
"transcript": "ENST00000375940.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375946.8",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365113.4",
"strand": true,
"transcript": "ENST00000375946.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 884,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": null,
"cds_end": null,
"cds_length": 2655,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001320757.2",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307686.1",
"strand": true,
"transcript": "NM_001320757.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 884,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5072,
"cdna_start": null,
"cds_end": null,
"cds_length": 2655,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969651.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639710.1",
"strand": true,
"transcript": "ENST00000969651.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 883,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": null,
"cds_end": null,
"cds_length": 2652,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001320756.2",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307685.1",
"strand": true,
"transcript": "NM_001320756.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 883,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": null,
"cds_end": null,
"cds_length": 2652,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969653.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639712.1",
"strand": true,
"transcript": "ENST00000969653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032844.5",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116233.2",
"strand": true,
"transcript": "NM_032844.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 845,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": null,
"cds_end": null,
"cds_length": 2538,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933942.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604001.1",
"strand": true,
"transcript": "ENST00000933942.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 844,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": null,
"cds_end": null,
"cds_length": 2535,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896815.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566874.1",
"strand": true,
"transcript": "ENST00000896815.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 841,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": null,
"cds_end": null,
"cds_length": 2526,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896814.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566873.1",
"strand": true,
"transcript": "ENST00000896814.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001172304.3",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165775.1",
"strand": true,
"transcript": "NM_001172304.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000342386.10",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343446.5",
"strand": true,
"transcript": "ENST00000342386.10",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": 833,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": null,
"cds_end": null,
"cds_length": 2502,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933947.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604006.1",
"strand": true,
"transcript": "ENST00000933947.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933948.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604007.1",
"strand": true,
"transcript": "ENST00000933948.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933941.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604000.1",
"strand": true,
"transcript": "ENST00000933941.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": null,
"cds_end": null,
"cds_length": 2172,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001372029.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-630T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358958.1",
"strand": true,
"transcript": "NM_001372029.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001372030.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-630T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358959.1",
"strand": true,
"transcript": "NM_001372030.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933944.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604003.1",
"strand": true,
"transcript": "ENST00000933944.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933946.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604005.1",
"strand": true,
"transcript": "ENST00000933946.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969652.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.-27T>A",
"hgvs_p": null,
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