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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: 9-5065003-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=5065003&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JAK2",
"hgnc_id": 6192,
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_004972.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "INSL6",
"hgnc_id": 6089,
"hgvs_c": "c.377-72570G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "XM_011517702.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.077,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28326475620269775,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004972.4",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000381652.4",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7151,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322194.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6669,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322195.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322196.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870320.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870321.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000870322.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000870323.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870324.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6906,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963937.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963938.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"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
},
{
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"aa_length": 1132,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963940.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633999.1",
"strand": true,
"transcript": "ENST00000963940.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 3399,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963941.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634000.1",
"strand": true,
"transcript": "ENST00000963941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "L",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 3372,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963939.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1150C>A",
"hgvs_p": "p.Leu384Ile",
"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": "I",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 3327,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870325.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540384.1",
"strand": true,
"transcript": "ENST00000870325.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 983,
"aa_ref": "L",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 2952,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322204.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Leu244Ile",
"intron_rank": null,
"intron_rank_end": null,
"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": "I",
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"aa_length": 709,
"aa_ref": "L",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2131,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636127.1",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Leu393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489812.1",
"strand": true,
"transcript": "ENST00000636127.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": null,
"cds_end": null,
"cds_length": 2184,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322198.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.-39C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"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": null,
"aa_end": null,
"aa_length": 727,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6870,
"cdna_start": null,
"cds_end": null,
"cds_length": 2184,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322199.2",
"gene_hgnc_id": 6192,
"gene_symbol": "JAK2",
"hgvs_c": "c.-39C>A",
"hgvs_p": null,
"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": [
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}