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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: 9-5081778-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=5081778&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "JAK2",
"hgnc_id": 6192,
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_004972.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "INSL6",
"hgnc_id": 6089,
"hgvs_c": "c.376+82401G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "XM_011517702.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 890,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "JAK2-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_004972.4",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381652.4",
"protein_coding": true,
"protein_id": "NP_004963.1",
"strand": true,
"transcript": "NM_004972.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000381652.4",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004972.4",
"protein_coding": true,
"protein_id": "ENSP00000371067.4",
"strand": true,
"transcript": "ENST00000381652.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7151,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322194.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309123.1",
"strand": true,
"transcript": "NM_001322194.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6669,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001322195.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309124.1",
"strand": true,
"transcript": "NM_001322195.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 2872,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001322196.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309125.1",
"strand": true,
"transcript": "NM_001322196.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 3241,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870320.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540379.1",
"strand": true,
"transcript": "ENST00000870320.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870321.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540380.1",
"strand": true,
"transcript": "ENST00000870321.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 3054,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870322.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540381.1",
"strand": true,
"transcript": "ENST00000870322.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 2689,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000870323.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540382.1",
"strand": true,
"transcript": "ENST00000870323.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 2986,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000870324.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540383.1",
"strand": true,
"transcript": "ENST00000870324.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6906,
"cdna_start": 2846,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000963937.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633996.1",
"strand": true,
"transcript": "ENST00000963937.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1132,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 2833,
"cds_end": null,
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"cds_start": 2488,
"consequences": [
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],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000963938.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633997.1",
"strand": true,
"transcript": "ENST00000963938.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2488,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000963940.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633999.1",
"strand": true,
"transcript": "ENST00000963940.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2630,
"cds_end": null,
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"cds_start": 2488,
"consequences": [
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],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000963941.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2488C>T",
"hgvs_p": "p.Leu830Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634000.1",
"strand": true,
"transcript": "ENST00000963941.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "L",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2461,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000963939.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2461C>T",
"hgvs_p": "p.Leu821Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633998.1",
"strand": true,
"transcript": "ENST00000963939.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1108,
"aa_ref": "L",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3327,
"cds_start": 2416,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870325.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Leu806Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540384.1",
"strand": true,
"transcript": "ENST00000870325.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 2514,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2041,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001322204.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.Leu681Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309133.1",
"strand": true,
"transcript": "NM_001322204.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 727,
"aa_ref": "L",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1273,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322198.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Leu425Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309127.1",
"strand": true,
"transcript": "NM_001322198.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 727,
"aa_ref": "L",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6870,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1273,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322199.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Leu425Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309128.1",
"strand": true,
"transcript": "NM_001322199.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 126,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 871,
"cdna_start": null,
"cds_end": null,
"cds_length": 381,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517702.4",
"gene_hgnc_id": 6089,
"gene_symbol": "INSL6",
"hgvs_c": "c.376+82401G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516004.1",
"strand": false,
"transcript": "XM_011517702.4",
"transcript_support_level": null
},
{
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{
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],
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}
]
}