← Back to variant description
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: 19-11397567-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11397567&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RGL3",
"hgnc_id": 30282,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Arg599Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001161616.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 136,
"alphamissense_prediction": null,
"alphamissense_score": 0.0764,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05217111110687256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001035223.4",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380456.8",
"protein_coding": true,
"protein_id": "NP_001030300.3",
"strand": false,
"transcript": "NM_001035223.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000380456.8",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001035223.4",
"protein_coding": true,
"protein_id": "ENSP00000369823.3",
"strand": false,
"transcript": "ENST00000380456.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000393423.7",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Arg599Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377075.3",
"strand": false,
"transcript": "ENST00000393423.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000920283.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Arg606Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590342.1",
"strand": false,
"transcript": "ENST00000920283.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001161616.3",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Arg599Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155088.2",
"strand": false,
"transcript": "NM_001161616.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1777,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000853010.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523069.1",
"strand": false,
"transcript": "ENST00000853010.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000920282.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1762C>T",
"hgvs_p": "p.Arg588Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590341.1",
"strand": false,
"transcript": "ENST00000920282.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000853012.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Arg582Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523071.1",
"strand": false,
"transcript": "ENST00000853012.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971806.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641865.1",
"strand": false,
"transcript": "ENST00000971806.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000920284.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1723C>T",
"hgvs_p": "p.Arg575Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590343.1",
"strand": false,
"transcript": "ENST00000920284.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853013.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Arg570Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523072.1",
"strand": false,
"transcript": "ENST00000853013.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1690,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853011.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523070.1",
"strand": false,
"transcript": "ENST00000853011.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1690,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971805.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641864.1",
"strand": false,
"transcript": "ENST00000971805.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000920286.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1681C>T",
"hgvs_p": "p.Arg561Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590345.1",
"strand": false,
"transcript": "ENST00000920286.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000920285.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Arg547Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590344.1",
"strand": false,
"transcript": "ENST00000920285.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000562663.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.*1011C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454678.1",
"strand": false,
"transcript": "ENST00000562663.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000563726.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.*1418C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455922.1",
"strand": false,
"transcript": "ENST00000563726.5",
"transcript_support_level": 2
},
{
"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": 2149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566153.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.1447C>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": "ENST00000566153.5",
"transcript_support_level": 2
},
{
"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": 440,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000566919.1",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.203C>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": "ENST00000566919.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000562663.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.*1011C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454678.1",
"strand": false,
"transcript": "ENST00000562663.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000563726.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.*1418C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455922.1",
"strand": false,
"transcript": "ENST00000563726.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568628.5",
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"hgvs_c": "n.-21C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000568628.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774918397",
"effect": "missense_variant",
"frequency_reference_population": 0.00008570017,
"gene_hgnc_id": 30282,
"gene_symbol": "RGL3",
"gnomad_exomes_ac": 128,
"gnomad_exomes_af": 0.0000892141,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.00005257,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.195,
"pos": 11397567,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.024,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.20000000298023224,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.2,
"transcript": "NM_001161616.3"
}
]
}