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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: 7-43788022-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43788022&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "BLVRA",
"hgnc_id": 1062,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000712.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hyperbiliverdinemia,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 207,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000712.4",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265523.9",
"protein_coding": true,
"protein_id": "NP_000703.2",
"strand": true,
"transcript": "NM_000712.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 207,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000265523.9",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000712.4",
"protein_coding": true,
"protein_id": "ENSP00000265523.4",
"strand": true,
"transcript": "ENST00000265523.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 203,
"cds_end": null,
"cds_length": 924,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940902.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610961.1",
"strand": true,
"transcript": "ENST00000940902.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 200,
"cds_end": null,
"cds_length": 921,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854107.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524166.1",
"strand": true,
"transcript": "ENST00000854107.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 305,
"aa_ref": "S",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 233,
"cds_end": null,
"cds_length": 918,
"cds_start": 158,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940900.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.158C>A",
"hgvs_p": "p.Ser53*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610959.1",
"strand": true,
"transcript": "ENST00000940900.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 301,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001253823.2",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240752.1",
"strand": true,
"transcript": "NM_001253823.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 294,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000402924.5",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385757.1",
"strand": true,
"transcript": "ENST00000402924.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 247,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854106.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524165.1",
"strand": true,
"transcript": "ENST00000854106.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 273,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854108.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524167.1",
"strand": true,
"transcript": "ENST00000854108.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 454,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929414.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599473.1",
"strand": true,
"transcript": "ENST00000929414.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1213,
"cdna_start": 349,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940899.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610958.1",
"strand": true,
"transcript": "ENST00000940899.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 300,
"cds_end": null,
"cds_length": 888,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940897.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610956.1",
"strand": true,
"transcript": "ENST00000940897.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 208,
"cds_end": null,
"cds_length": 888,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940898.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610957.1",
"strand": true,
"transcript": "ENST00000940898.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 349,
"cds_end": null,
"cds_length": 888,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940901.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610960.1",
"strand": true,
"transcript": "ENST00000940901.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": 226,
"cds_end": null,
"cds_length": 885,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929415.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599474.1",
"strand": true,
"transcript": "ENST00000929415.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 260,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 207,
"cds_end": null,
"cds_length": 783,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929416.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599475.1",
"strand": true,
"transcript": "ENST00000929416.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 443,
"cdna_start": 267,
"cds_end": null,
"cds_length": 307,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424330.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412005.1",
"strand": true,
"transcript": "ENST00000424330.1",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 247,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011515474.3",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513776.1",
"strand": true,
"transcript": "XM_011515474.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1120,
"cdna_start": 253,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017012520.3",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868009.1",
"strand": true,
"transcript": "XM_017012520.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1163,
"cdna_start": 296,
"cds_end": null,
"cds_length": 891,
"cds_start": 131,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024446867.2",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ser44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302635.1",
"strand": true,
"transcript": "XM_024446867.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000453612.1",
"gene_hgnc_id": 1062,
"gene_symbol": "BLVRA",
"hgvs_c": "n.155C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000453612.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
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}
]
}