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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: 1-2587213-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2587213&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRXL2B",
"hgnc_id": 28390,
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001195736.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0801,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"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": 0.071444571018219,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 198,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 295,
"cds_end": null,
"cds_length": 597,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_152371.5",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000419916.8",
"protein_coding": true,
"protein_id": "NP_689584.5",
"strand": true,
"transcript": "NM_152371.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 198,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 295,
"cds_end": null,
"cds_length": 597,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000419916.8",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152371.5",
"protein_coding": true,
"protein_id": "ENSP00000394405.4",
"strand": true,
"transcript": "ENST00000419916.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 246,
"aa_ref": "D",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 322,
"cds_end": null,
"cds_length": 741,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000444521.6",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.276C>G",
"hgvs_p": "p.Asp92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413218.3",
"strand": true,
"transcript": "ENST00000444521.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 216,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 295,
"cds_end": null,
"cds_length": 651,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001195736.3",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182665.4",
"strand": true,
"transcript": "NM_001195736.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 201,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 292,
"cds_end": null,
"cds_length": 606,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378424.9",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367681.5",
"strand": true,
"transcript": "ENST00000378424.9",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 196,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 263,
"cds_end": null,
"cds_length": 591,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000923154.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593213.1",
"strand": true,
"transcript": "ENST00000923154.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 195,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 274,
"cds_end": null,
"cds_length": 588,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877699.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547758.1",
"strand": true,
"transcript": "ENST00000877699.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 295,
"cds_end": null,
"cds_length": 585,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001195737.3",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182666.4",
"strand": true,
"transcript": "NM_001195737.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 300,
"cds_end": null,
"cds_length": 585,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877697.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547756.1",
"strand": true,
"transcript": "ENST00000877697.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 238,
"cds_end": null,
"cds_length": 585,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971684.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Asp58Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641743.1",
"strand": true,
"transcript": "ENST00000971684.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 192,
"aa_ref": "D",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 322,
"cds_end": null,
"cds_length": 579,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378425.9",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.276C>G",
"hgvs_p": "p.Asp92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367682.6",
"strand": true,
"transcript": "ENST00000378425.9",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 184,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 263,
"cds_end": null,
"cds_length": 555,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000923153.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593212.1",
"strand": true,
"transcript": "ENST00000923153.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 183,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 295,
"cds_end": null,
"cds_length": 552,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001195738.3",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182667.4",
"strand": true,
"transcript": "NM_001195738.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 183,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 274,
"cds_end": null,
"cds_length": 552,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378427.6",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367684.2",
"strand": true,
"transcript": "ENST00000378427.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 180,
"aa_ref": "D",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 220,
"cds_end": null,
"cds_length": 543,
"cds_start": 132,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877698.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.132C>G",
"hgvs_p": "p.Asp44Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547757.1",
"strand": true,
"transcript": "ENST00000877698.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 177,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": 239,
"cds_end": null,
"cds_length": 536,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465233.6",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462185.2",
"strand": true,
"transcript": "ENST00000465233.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 162,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 295,
"cds_end": null,
"cds_length": 489,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001195740.3",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182669.4",
"strand": true,
"transcript": "NM_001195740.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 161,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 295,
"cds_end": null,
"cds_length": 486,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001195741.3",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182670.4",
"strand": true,
"transcript": "NM_001195741.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 161,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 276,
"cds_end": null,
"cds_length": 486,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000537325.6",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443605.2",
"strand": true,
"transcript": "ENST00000537325.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 150,
"aa_ref": "D",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 464,
"cdna_start": 195,
"cds_end": null,
"cds_length": 455,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000498083.2",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Asp62Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463127.2",
"strand": true,
"transcript": "ENST00000498083.2",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 270,
"aa_ref": "D",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 295,
"cds_end": null,
"cds_length": 813,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047445405.1",
"gene_hgnc_id": 28390,
"gene_symbol": "PRXL2B",
"hgvs_c": "c.276C>G",
"hgvs_p": "p.Asp92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301361.1",
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