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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: 7-105565621-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105565621&ref=G&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": "RINT1",
"hgnc_id": 21876,
"hgvs_c": "c.2159G>C",
"hgvs_p": "p.Cys720Ser",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_021930.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "EFCAB10",
"hgnc_id": 34531,
"hgvs_c": "c.384-6C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001355530.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.252,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8661701679229736,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 792,
"aa_ref": "C",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_021930.6",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2159G>C",
"hgvs_p": "p.Cys720Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257700.7",
"protein_coding": true,
"protein_id": "NP_068749.3",
"strand": true,
"transcript": "NM_021930.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 792,
"aa_ref": "C",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000257700.7",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2159G>C",
"hgvs_p": "p.Cys720Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021930.6",
"protein_coding": true,
"protein_id": "ENSP00000257700.2",
"strand": true,
"transcript": "ENST00000257700.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 127,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": null,
"cds_end": null,
"cds_length": 384,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001355526.2",
"gene_hgnc_id": 34531,
"gene_symbol": "EFCAB10",
"hgvs_c": "c.384-174C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000480514.6",
"protein_coding": true,
"protein_id": "NP_001342455.1",
"strand": false,
"transcript": "NM_001355526.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 127,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": null,
"cds_end": null,
"cds_length": 384,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000480514.6",
"gene_hgnc_id": 34531,
"gene_symbol": "EFCAB10",
"hgvs_c": "c.384-174C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001355526.2",
"protein_coding": true,
"protein_id": "ENSP00000418678.1",
"strand": false,
"transcript": "ENST00000480514.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 827,
"aa_ref": "C",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967558.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2264G>C",
"hgvs_p": "p.Cys755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637617.1",
"strand": true,
"transcript": "ENST00000967558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 826,
"aa_ref": "C",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2261,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000899074.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2261G>C",
"hgvs_p": "p.Cys754Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569133.1",
"strand": true,
"transcript": "ENST00000899074.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 810,
"aa_ref": "C",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000899073.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2213G>C",
"hgvs_p": "p.Cys738Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569132.1",
"strand": true,
"transcript": "ENST00000899073.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 802,
"aa_ref": "C",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2189,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000899072.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2189G>C",
"hgvs_p": "p.Cys730Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569131.1",
"strand": true,
"transcript": "ENST00000899072.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 784,
"aa_ref": "C",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000899070.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Cys712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569129.1",
"strand": true,
"transcript": "ENST00000899070.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 784,
"aa_ref": "C",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930235.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Cys712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600294.1",
"strand": true,
"transcript": "ENST00000930235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 779,
"aa_ref": "C",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2120,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967559.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2120G>C",
"hgvs_p": "p.Cys707Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637618.1",
"strand": true,
"transcript": "ENST00000967559.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "C",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930233.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2075G>C",
"hgvs_p": "p.Cys692Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600292.1",
"strand": true,
"transcript": "ENST00000930233.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 752,
"aa_ref": "C",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930234.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Cys680Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600293.1",
"strand": true,
"transcript": "ENST00000930234.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 750,
"aa_ref": "C",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 2253,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930237.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.2033G>C",
"hgvs_p": "p.Cys678Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600296.1",
"strand": true,
"transcript": "ENST00000930237.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 738,
"aa_ref": "C",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000930236.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Cys666Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600295.1",
"strand": true,
"transcript": "ENST00000930236.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 734,
"aa_ref": "C",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899071.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1985G>C",
"hgvs_p": "p.Cys662Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569130.1",
"strand": true,
"transcript": "ENST00000899071.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 714,
"aa_ref": "C",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001346599.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1925G>C",
"hgvs_p": "p.Cys642Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333528.1",
"strand": true,
"transcript": "NM_001346599.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "C",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001346601.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1235G>C",
"hgvs_p": "p.Cys412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333530.1",
"strand": true,
"transcript": "NM_001346601.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 451,
"aa_ref": "C",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001346600.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Cys379Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333529.1",
"strand": true,
"transcript": "NM_001346600.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 451,
"aa_ref": "C",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001346603.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Cys379Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333532.1",
"strand": true,
"transcript": "NM_001346603.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "C",
"aa_start": 579,
"biotype": "protein_coding",
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