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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: 1-64837707-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=64837707&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "JAK1",
"hgnc_id": 6190,
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002227.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 4165,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5092,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002227.4",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000342505.5",
"protein_coding": true,
"protein_id": "NP_002218.2",
"strand": false,
"transcript": "NM_002227.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5092,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342505.5",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002227.4",
"protein_coding": true,
"protein_id": "ENSP00000343204.4",
"strand": false,
"transcript": "ENST00000342505.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320923.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307852.1",
"strand": false,
"transcript": "NM_001320923.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321852.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308781.1",
"strand": false,
"transcript": "NM_001321852.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321853.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308782.1",
"strand": false,
"transcript": "NM_001321853.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321854.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308783.1",
"strand": false,
"transcript": "NM_001321854.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321855.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308784.1",
"strand": false,
"transcript": "NM_001321855.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321856.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308785.1",
"strand": false,
"transcript": "NM_001321856.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671929.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500485.1",
"strand": false,
"transcript": "ENST00000671929.2",
"transcript_support_level": null
},
{
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"aa_length": 1154,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671954.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500841.1",
"strand": false,
"transcript": "ENST00000671954.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000672179.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500296.1",
"strand": false,
"transcript": "ENST00000672179.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000672247.2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000499884.1",
"strand": false,
"transcript": "ENST00000672247.2",
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},
{
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"feature": "ENST00000672434.2",
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"protein_id": "ENSP00000499900.1",
"strand": false,
"transcript": "ENST00000672434.2",
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},
{
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"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000672751.2",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000500745.2",
"strand": false,
"transcript": "ENST00000672751.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000699262.1",
"gene_hgnc_id": 6190,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514243.1",
"strand": false,
"transcript": "ENST00000699262.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000699312.1",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514291.1",
"strand": false,
"transcript": "ENST00000699312.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4826,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000893440.1",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563499.1",
"strand": false,
"transcript": "ENST00000893440.1",
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},
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],
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"feature": "ENST00000893442.1",
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"transcript": "ENST00000893442.1",
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},
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],
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"feature": "ENST00000970944.1",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000970944.1",
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},
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970946.1",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641005.1",
"strand": false,
"transcript": "ENST00000970946.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970947.1",
"gene_hgnc_id": 6190,
"gene_symbol": "JAK1",
"hgvs_c": "c.3140+225C>T",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641006.1",
"strand": false,
"transcript": "ENST00000970947.1",
"transcript_support_level": null
},
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"biotype": "protein_coding",
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