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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: X-65727833-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65727833&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "MSN",
"hgnc_id": 7373,
"hgvs_c": "c.119T>A",
"hgvs_p": "p.Leu40*",
"inheritance_mode": "XL",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001440778.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 577,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1734,
"cds_start": 116,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002444.3",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.116T>A",
"hgvs_p": "p.Leu39*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360270.7",
"protein_coding": true,
"protein_id": "NP_002435.1",
"strand": true,
"transcript": "NM_002444.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 577,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1734,
"cds_start": 116,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000360270.7",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.116T>A",
"hgvs_p": "p.Leu39*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002444.3",
"protein_coding": true,
"protein_id": "ENSP00000353408.5",
"strand": true,
"transcript": "ENST00000360270.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 340,
"cds_end": null,
"cds_length": 1737,
"cds_start": 119,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440778.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.119T>A",
"hgvs_p": "p.Leu40*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427707.1",
"strand": true,
"transcript": "NM_001440778.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 577,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1734,
"cds_start": 116,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943362.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.116T>A",
"hgvs_p": "p.Leu39*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613421.1",
"strand": true,
"transcript": "ENST00000943362.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 575,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1728,
"cds_start": 116,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915048.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.116T>A",
"hgvs_p": "p.Leu39*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585107.1",
"strand": true,
"transcript": "ENST00000915048.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 573,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3947,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1722,
"cds_start": 116,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915049.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.116T>A",
"hgvs_p": "p.Leu39*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585108.1",
"strand": true,
"transcript": "ENST00000915049.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 566,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1701,
"cds_start": 83,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697133.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513131.1",
"strand": true,
"transcript": "ENST00000697133.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 566,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1701,
"cds_start": 83,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697137.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513133.1",
"strand": true,
"transcript": "ENST00000697137.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 566,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1701,
"cds_start": 83,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000697138.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513134.1",
"strand": true,
"transcript": "ENST00000697138.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 549,
"aa_ref": "L",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1650,
"cds_start": 32,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943363.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Leu11*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613422.1",
"strand": true,
"transcript": "ENST00000943363.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 102,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 568,
"cdna_start": 340,
"cds_end": null,
"cds_length": 311,
"cds_start": 83,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000609672.5",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477441.1",
"strand": true,
"transcript": "ENST00000609672.5",
"transcript_support_level": 4
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 610,
"aa_ref": "L",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1833,
"cds_start": 215,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011530959.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.215T>A",
"hgvs_p": "p.Leu72*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529261.1",
"strand": true,
"transcript": "XM_011530959.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 574,
"aa_ref": "L",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8474,
"cdna_start": 4818,
"cds_end": null,
"cds_length": 1725,
"cds_start": 107,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047442129.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.107T>A",
"hgvs_p": "p.Leu36*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298085.1",
"strand": true,
"transcript": "XM_047442129.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 574,
"aa_ref": "L",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 433,
"cds_end": null,
"cds_length": 1725,
"cds_start": 107,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442130.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.107T>A",
"hgvs_p": "p.Leu36*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298086.1",
"strand": true,
"transcript": "XM_047442130.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 574,
"aa_ref": "L",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7814,
"cdna_start": 4158,
"cds_end": null,
"cds_length": 1725,
"cds_start": 107,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442131.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.107T>A",
"hgvs_p": "p.Leu36*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298087.1",
"strand": true,
"transcript": "XM_047442131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885865.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "c.97-1605T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555924.1",
"strand": true,
"transcript": "ENST00000885865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697134.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "n.*88T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513132.1",
"strand": true,
"transcript": "ENST00000697134.1",
"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": 5338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697135.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "n.304T>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": "ENST00000697135.1",
"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": 736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697136.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "n.249T>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": "ENST00000697136.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697140.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "n.230T>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": "ENST00000697140.1",
"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": 767,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000697141.1",
"gene_hgnc_id": 7373,
"gene_symbol": "MSN",
"hgvs_c": "n.493T>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": "ENST00000697141.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
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],
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"protein_coding": false,
"protein_id": "ENSP00000513132.1",
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}
],
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"dbsnp": "rs1034323442",
"effect": "stop_gained",
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Pathogenic",
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"ref": "T",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}