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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: 19-46755745-GTG-CTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755745&ref=GTG&alt=CTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_024301.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTA",
"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": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024301.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318584.10",
"protein_coding": true,
"protein_id": "NP_077277.1",
"strand": true,
"transcript": "NM_024301.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318584.10",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024301.5",
"protein_coding": true,
"protein_id": "ENSP00000326570.4",
"strand": true,
"transcript": "ENST00000318584.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001039885.3",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034974.1",
"strand": true,
"transcript": "NM_001039885.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000391909.7",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375776.2",
"strand": true,
"transcript": "ENST00000391909.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908841.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578900.1",
"strand": true,
"transcript": "ENST00000908841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908842.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578901.1",
"strand": true,
"transcript": "ENST00000908842.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908843.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578902.1",
"strand": true,
"transcript": "ENST00000908843.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908844.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578903.1",
"strand": true,
"transcript": "ENST00000908844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908845.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578904.1",
"strand": true,
"transcript": "ENST00000908845.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908846.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578905.1",
"strand": true,
"transcript": "ENST00000908846.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929288.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599347.1",
"strand": true,
"transcript": "ENST00000929288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929289.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599348.1",
"strand": true,
"transcript": "ENST00000929289.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929290.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599349.1",
"strand": true,
"transcript": "ENST00000929290.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929291.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599350.1",
"strand": true,
"transcript": "ENST00000929291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4536,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962124.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632183.1",
"strand": true,
"transcript": "ENST00000962124.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962125.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632184.1",
"strand": true,
"transcript": "ENST00000962125.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962126.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632185.1",
"strand": true,
"transcript": "ENST00000962126.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1488,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962127.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632186.1",
"strand": true,
"transcript": "ENST00000962127.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 161,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": 441,
"cds_end": null,
"cds_length": 487,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601299.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470103.1",
"strand": true,
"transcript": "ENST00000601299.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 136,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": 461,
"cds_end": null,
"cds_length": 411,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593902.1",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470901.1",
"strand": true,
"transcript": "ENST00000593902.1",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 113,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": 501,
"cds_end": null,
"cds_length": 342,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600005.5",
"gene_hgnc_id": 17997,
"gene_symbol": "FKRP",
"hgvs_c": "c.295_297delGTGinsCTA",
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