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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: 20-35384111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35384111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UQCC1",
"hgnc_id": 15891,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_018244.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 969817,
"alphamissense_prediction": null,
"alphamissense_score": 0.067,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "20",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000001595091589479125,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 162,
"cds_end": null,
"cds_length": 900,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_018244.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374385.10",
"protein_coding": true,
"protein_id": "NP_060714.3",
"strand": false,
"transcript": "NM_018244.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 162,
"cds_end": null,
"cds_length": 900,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374385.10",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018244.5",
"protein_coding": true,
"protein_id": "ENSP00000363506.5",
"strand": false,
"transcript": "ENST00000374385.10",
"transcript_support_level": 1
},
{
"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": 1987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457259.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.123+9981G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411024.1",
"strand": false,
"transcript": "ENST00000457259.5",
"transcript_support_level": 1
},
{
"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": 1017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491040.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*108-2086G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420584.1",
"strand": false,
"transcript": "ENST00000491040.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 197,
"cds_end": null,
"cds_length": 921,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959003.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629062.1",
"strand": false,
"transcript": "ENST00000959003.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 176,
"cds_end": null,
"cds_length": 897,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896131.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566190.1",
"strand": false,
"transcript": "ENST00000896131.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 174,
"cds_end": null,
"cds_length": 894,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896134.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566193.1",
"strand": false,
"transcript": "ENST00000896134.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 296,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 250,
"cds_end": null,
"cds_length": 891,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922688.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592747.1",
"strand": false,
"transcript": "ENST00000922688.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 295,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 176,
"cds_end": null,
"cds_length": 888,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922690.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592749.1",
"strand": false,
"transcript": "ENST00000922690.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 295,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 220,
"cds_end": null,
"cds_length": 888,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959001.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629060.1",
"strand": false,
"transcript": "ENST00000959001.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 176,
"cds_end": null,
"cds_length": 879,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922689.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592748.1",
"strand": false,
"transcript": "ENST00000922689.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 176,
"cds_end": null,
"cds_length": 834,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896132.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566191.1",
"strand": false,
"transcript": "ENST00000896132.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 162,
"cds_end": null,
"cds_length": 822,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_199487.3",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955781.2",
"strand": false,
"transcript": "NM_199487.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 162,
"cds_end": null,
"cds_length": 822,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374384.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363505.2",
"strand": false,
"transcript": "ENST00000374384.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 152,
"cds_end": null,
"cds_length": 819,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000349714.9",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335364.6",
"strand": false,
"transcript": "ENST00000349714.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 264,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 57,
"cds_end": null,
"cds_length": 795,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896135.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566194.1",
"strand": false,
"transcript": "ENST00000896135.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 263,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 176,
"cds_end": null,
"cds_length": 792,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896133.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566192.1",
"strand": false,
"transcript": "ENST00000896133.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 262,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 162,
"cds_end": null,
"cds_length": 789,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959004.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629063.1",
"strand": false,
"transcript": "ENST00000959004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 200,
"cds_end": null,
"cds_length": 730,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000438533.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398531.1",
"strand": false,
"transcript": "ENST00000438533.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 163,
"cds_end": null,
"cds_length": 666,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397554.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380686.1",
"strand": false,
"transcript": "ENST00000397554.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 219,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 159,
"cds_end": null,
"cds_length": 660,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000359226.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"phenotype_combined": "not provided",
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}
]
}