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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: 9-136979044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136979044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTGDS",
"hgnc_id": 9592,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_000954.6",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000284341",
"hgnc_id": null,
"hgvs_c": "n.166C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000471521.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1447,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "9",
"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": 0.30469831824302673,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000954.6",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371625.8",
"protein_coding": true,
"protein_id": "NP_000945.3",
"strand": true,
"transcript": "NM_000954.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000371625.8",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000954.6",
"protein_coding": true,
"protein_id": "ENSP00000360687.3",
"strand": true,
"transcript": "ENST00000371625.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000471521.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284341",
"hgvs_c": "n.166C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435033.1",
"strand": true,
"transcript": "ENST00000471521.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 1302,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851752.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521811.1",
"strand": true,
"transcript": "ENST00000851752.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 275,
"aa_ref": "R",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1077,
"cdna_start": 506,
"cds_end": null,
"cds_length": 828,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851753.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521812.1",
"strand": true,
"transcript": "ENST00000851753.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 246,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 980,
"cdna_start": 409,
"cds_end": null,
"cds_length": 741,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851760.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521819.1",
"strand": true,
"transcript": "ENST00000851760.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 231,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 241,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954962.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625021.1",
"strand": true,
"transcript": "ENST00000954962.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 197,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": 241,
"cds_end": null,
"cds_length": 594,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851755.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521814.1",
"strand": true,
"transcript": "ENST00000851755.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": 240,
"cds_end": null,
"cds_length": 588,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954964.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625023.1",
"strand": true,
"transcript": "ENST00000954964.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 661,
"cdna_start": 240,
"cds_end": null,
"cds_length": 587,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000457950.5",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392633.1",
"strand": true,
"transcript": "ENST00000457950.5",
"transcript_support_level": 3
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 893,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851751.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521810.1",
"strand": true,
"transcript": "ENST00000851751.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851756.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521815.1",
"strand": true,
"transcript": "ENST00000851756.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851758.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521817.1",
"strand": true,
"transcript": "ENST00000851758.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851759.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521818.1",
"strand": true,
"transcript": "ENST00000851759.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851761.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521820.1",
"strand": true,
"transcript": "ENST00000851761.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 241,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851762.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521821.1",
"strand": true,
"transcript": "ENST00000851762.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954960.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625019.1",
"strand": true,
"transcript": "ENST00000954960.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 168,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": 241,
"cds_end": null,
"cds_length": 507,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954963.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625022.1",
"strand": true,
"transcript": "ENST00000954963.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 156,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 718,
"cdna_start": 241,
"cds_end": null,
"cds_length": 471,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851754.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521813.1",
"strand": true,
"transcript": "ENST00000851754.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 156,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 731,
"cdna_start": 241,
"cds_end": null,
"cds_length": 471,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851757.1",
"gene_hgnc_id": 9592,
"gene_symbol": "PTGDS",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521816.1",
"strand": true,
"transcript": "ENST00000851757.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 605,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
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}