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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: 17-17992891-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17992891&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17992891,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000399187.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "NM_031294.4",
"protein_id": "NP_112584.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 523,
"cds_start": 571,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": "ENST00000399187.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "ENST00000399187.6",
"protein_id": "ENSP00000382140.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 523,
"cds_start": 571,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": "NM_031294.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "ENST00000399182.5",
"protein_id": "ENSP00000382136.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 457,
"cds_start": 571,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "ENST00000584166.5",
"protein_id": "ENSP00000462661.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 457,
"cds_start": 571,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.127C>G",
"hgvs_p": null,
"transcript": "ENST00000583171.5",
"protein_id": "ENSP00000464101.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "NM_001130090.1",
"protein_id": "NP_001123562.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 523,
"cds_start": 571,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "NM_001130091.2",
"protein_id": "NP_001123563.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 457,
"cds_start": 571,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "NM_001130092.2",
"protein_id": "NP_001123564.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 457,
"cds_start": 571,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011524018.3",
"protein_id": "XP_011522320.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 562,
"cds_start": 631,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011524020.3",
"protein_id": "XP_011522322.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 562,
"cds_start": 631,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011524021.3",
"protein_id": "XP_011522323.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 543,
"cds_start": 631,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "XM_024450963.2",
"protein_id": "XP_024306731.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 542,
"cds_start": 571,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "XM_024450964.2",
"protein_id": "XP_024306732.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 542,
"cds_start": 571,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly",
"transcript": "XM_024450965.2",
"protein_id": "XP_024306733.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 542,
"cds_start": 571,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011524022.3",
"protein_id": "XP_011522324.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 496,
"cds_start": 631,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011524023.3",
"protein_id": "XP_011522325.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 496,
"cds_start": 631,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_047436875.1",
"protein_id": "XP_047292831.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 322,
"cds_start": 631,
"cds_end": null,
"cds_length": 969,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.771C>G",
"hgvs_p": null,
"transcript": "ENST00000490517.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.38C>G",
"hgvs_p": null,
"transcript": "ENST00000577202.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.921C>G",
"hgvs_p": null,
"transcript": "XR_001752656.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.921C>G",
"hgvs_p": null,
"transcript": "XR_007065485.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC3",
"gene_hgnc_id": 25384,
"hgvs_c": "n.921C>G",
"hgvs_p": null,
"transcript": "XR_934111.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATPAF2",
"gene_hgnc_id": 18802,
"hgvs_c": "n.*34-3299G>C",
"hgvs_p": null,
"transcript": "ENST00000584205.5",
"protein_id": "ENSP00000462899.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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}
],
"gene_symbol": "DRC3",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7327650189399719,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.499,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399187.6",
"gene_symbol": "DRC3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Arg191Gly"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000584205.5",
"gene_symbol": "ATPAF2",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*34-3299G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}