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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: 19-11397558-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11397558&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11397558,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001161616.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "NM_001035223.4",
"protein_id": "NP_001030300.3",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 710,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380456.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035223.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "ENST00000380456.8",
"protein_id": "ENSP00000369823.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 710,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001035223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380456.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Ala602Thr",
"transcript": "ENST00000393423.7",
"protein_id": "ENSP00000377075.3",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 716,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393423.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000920283.1",
"protein_id": "ENSP00000590342.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 723,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920283.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Ala602Thr",
"transcript": "NM_001161616.3",
"protein_id": "NP_001155088.2",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 716,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161616.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "ENST00000853010.1",
"protein_id": "ENSP00000523069.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 710,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853010.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Ala591Thr",
"transcript": "ENST00000920282.1",
"protein_id": "ENSP00000590341.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 705,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920282.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"transcript": "ENST00000853012.1",
"protein_id": "ENSP00000523071.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 699,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853012.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "ENST00000971806.1",
"protein_id": "ENSP00000641865.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 694,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971806.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Ala578Thr",
"transcript": "ENST00000920284.1",
"protein_id": "ENSP00000590343.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 692,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920284.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Ala573Thr",
"transcript": "ENST00000853013.1",
"protein_id": "ENSP00000523072.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 687,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853013.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "ENST00000853011.1",
"protein_id": "ENSP00000523070.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 681,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853011.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "ENST00000971805.1",
"protein_id": "ENSP00000641864.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 681,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971805.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Ala564Thr",
"transcript": "ENST00000920286.1",
"protein_id": "ENSP00000590345.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 678,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920286.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"transcript": "ENST00000920285.1",
"protein_id": "ENSP00000590344.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 664,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1020G>A",
"hgvs_p": null,
"transcript": "ENST00000562663.5",
"protein_id": "ENSP00000454678.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1427G>A",
"hgvs_p": null,
"transcript": "ENST00000563726.5",
"protein_id": "ENSP00000455922.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563726.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.1456G>A",
"hgvs_p": null,
"transcript": "ENST00000566153.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.212G>A",
"hgvs_p": null,
"transcript": "ENST00000566919.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1020G>A",
"hgvs_p": null,
"transcript": "ENST00000562663.5",
"protein_id": "ENSP00000454678.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1427G>A",
"hgvs_p": null,
"transcript": "ENST00000563726.5",
"protein_id": "ENSP00000455922.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563726.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.-12G>A",
"hgvs_p": null,
"transcript": "ENST00000568628.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568628.5"
}
],
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"dbsnp": "rs774088081",
"frequency_reference_population": 0.0000069116813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000691168,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047556906938552856,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.026,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001161616.3",
"gene_symbol": "RGL3",
"hgnc_id": 30282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Ala602Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}