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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: 19-40441871-GC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40441871&ref=GC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SERTAD3",
"hgnc_id": 17931,
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_013368.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 337,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_203344.3",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322354.4",
"protein_coding": true,
"protein_id": "NP_976219.1",
"strand": false,
"transcript": "NM_203344.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 337,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322354.4",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203344.3",
"protein_coding": true,
"protein_id": "ENSP00000325414.2",
"strand": false,
"transcript": "ENST00000322354.4",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 488,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392028.9",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375882.3",
"strand": false,
"transcript": "ENST00000392028.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 488,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013368.4",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037500.2",
"strand": false,
"transcript": "NM_013368.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 490,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865349.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535408.1",
"strand": false,
"transcript": "ENST00000865349.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 642,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865350.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535409.1",
"strand": false,
"transcript": "ENST00000865350.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 450,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865351.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535410.1",
"strand": false,
"transcript": "ENST00000865351.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 616,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865352.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535411.1",
"strand": false,
"transcript": "ENST00000865352.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 503,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865353.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535412.1",
"strand": false,
"transcript": "ENST00000865353.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 479,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865354.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535413.1",
"strand": false,
"transcript": "ENST00000865354.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865355.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535414.1",
"strand": false,
"transcript": "ENST00000865355.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865356.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535415.1",
"strand": false,
"transcript": "ENST00000865356.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 387,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865357.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535416.1",
"strand": false,
"transcript": "ENST00000865357.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 645,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921116.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591175.1",
"strand": false,
"transcript": "ENST00000921116.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 344,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921117.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591176.1",
"strand": false,
"transcript": "ENST00000921117.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 745,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921118.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591177.1",
"strand": false,
"transcript": "ENST00000921118.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 759,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921119.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591178.1",
"strand": false,
"transcript": "ENST00000921119.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921120.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591179.1",
"strand": false,
"transcript": "ENST00000921120.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 883,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921121.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591180.1",
"strand": false,
"transcript": "ENST00000921121.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 610,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921122.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591181.1",
"strand": false,
"transcript": "ENST00000921122.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 265,
"cds_end": null,
"cds_length": 591,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921123.1",
"gene_hgnc_id": 17931,
"gene_symbol": "SERTAD3",
"hgvs_c": "c.209_210delGCinsCG",
"hgvs_p": "p.Arg70Pro",
"intron_rank": null,
"intron_rank_end": null,
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