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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: 1-202276392-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202276392&ref=A&alt=C&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": "LGR6",
"hgnc_id": 19719,
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001017403.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.8994,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8878145217895508,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 967,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2904,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001017403.2",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367278.8",
"protein_coding": true,
"protein_id": "NP_001017403.1",
"strand": true,
"transcript": "NM_001017403.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 967,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2904,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367278.8",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017403.2",
"protein_coding": true,
"protein_id": "ENSP00000356247.3",
"strand": true,
"transcript": "ENST00000367278.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 915,
"aa_ref": "N",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 443,
"cds_end": null,
"cds_length": 2748,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000255432.11",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.359A>C",
"hgvs_p": "p.Asn120Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000255432.7",
"strand": true,
"transcript": "ENST00000255432.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 828,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": null,
"cds_end": null,
"cds_length": 2487,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439764.2",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.300-21116A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387869.2",
"strand": true,
"transcript": "ENST00000439764.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011509842.3",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.-56A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508144.1",
"strand": true,
"transcript": "XM_011509842.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011509843.3",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.-56A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508145.1",
"strand": true,
"transcript": "XM_011509843.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011509846.3",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.-56A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508148.1",
"strand": true,
"transcript": "XM_011509846.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 739,
"cds_end": null,
"cds_length": 3045,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904634.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574693.1",
"strand": true,
"transcript": "ENST00000904634.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 577,
"cds_end": null,
"cds_length": 3015,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904651.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574710.1",
"strand": true,
"transcript": "ENST00000904651.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 990,
"aa_ref": "N",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 538,
"cds_end": null,
"cds_length": 2973,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000904646.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Asn148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574705.1",
"strand": true,
"transcript": "ENST00000904646.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 990,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 610,
"cds_end": null,
"cds_length": 2973,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956149.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626208.1",
"strand": true,
"transcript": "ENST00000956149.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2883,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904636.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574695.1",
"strand": true,
"transcript": "ENST00000904636.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 944,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2835,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904642.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574701.1",
"strand": true,
"transcript": "ENST00000904642.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 943,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": 778,
"cds_end": null,
"cds_length": 2832,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904633.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574692.1",
"strand": true,
"transcript": "ENST00000904633.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 943,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 648,
"cds_end": null,
"cds_length": 2832,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000904637.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Asn148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574696.1",
"strand": true,
"transcript": "ENST00000904637.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 943,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2832,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904639.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574698.1",
"strand": true,
"transcript": "ENST00000904639.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 943,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 610,
"cds_end": null,
"cds_length": 2832,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904650.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574709.1",
"strand": true,
"transcript": "ENST00000904650.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 942,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 637,
"cds_end": null,
"cds_length": 2829,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904647.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574706.1",
"strand": true,
"transcript": "ENST00000904647.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 942,
"aa_ref": "N",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 461,
"cds_end": null,
"cds_length": 2829,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956150.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Asn148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626209.1",
"strand": true,
"transcript": "ENST00000956150.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 920,
"aa_ref": "N",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 581,
"cds_end": null,
"cds_length": 2763,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904652.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.Asn172Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574711.1",
"strand": true,
"transcript": "ENST00000904652.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 919,
"aa_ref": "N",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3631,
"cdna_start": 741,
"cds_end": null,
"cds_length": 2760,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000904632.1",
"gene_hgnc_id": 19719,
"gene_symbol": "LGR6",
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Asn148Thr",
"intron_rank": null,
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