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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: 22-29273723-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29273723&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EWSR1",
"hgnc_id": 3508,
"hgvs_c": "c.103-15C>T",
"hgvs_p": null,
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001438500.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005243.4",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397938.7",
"protein_coding": true,
"protein_id": "NP_005234.1",
"strand": true,
"transcript": "NM_005243.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397938.7",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005243.4",
"protein_coding": true,
"protein_id": "ENSP00000381031.2",
"strand": true,
"transcript": "ENST00000397938.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 655,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": null,
"cds_end": null,
"cds_length": 1968,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406548.5",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385726.1",
"strand": true,
"transcript": "ENST00000406548.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": null,
"cds_end": null,
"cds_length": 1863,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332050.10",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330896.7",
"strand": true,
"transcript": "ENST00000332050.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333395.11",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327456.6",
"strand": true,
"transcript": "ENST00000333395.11",
"transcript_support_level": 1
},
{
"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": 3231,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483415.5",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "n.127-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000483415.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 675,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": null,
"cds_end": null,
"cds_length": 2028,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959983.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630042.1",
"strand": true,
"transcript": "ENST00000959983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 674,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": null,
"cds_end": null,
"cds_length": 2025,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889504.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559563.1",
"strand": true,
"transcript": "ENST00000889504.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 670,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2013,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438500.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-15C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425429.1",
"strand": true,
"transcript": "NM_001438500.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 669,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": null,
"cds_end": null,
"cds_length": 2010,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438528.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425457.1",
"strand": true,
"transcript": "NM_001438528.1",
"transcript_support_level": null
},
{
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"aa_length": 669,
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"biotype": "protein_coding",
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"cdna_length": 2439,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "NM_001438530.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-15C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425459.1",
"strand": true,
"transcript": "NM_001438530.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2010,
"cds_start": null,
"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000889476.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559535.1",
"strand": true,
"transcript": "ENST00000889476.1",
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},
{
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],
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"feature": "NM_001438531.1",
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"protein_coding": true,
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"strand": true,
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000889472.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559531.1",
"strand": true,
"transcript": "ENST00000889472.1",
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},
{
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"cdna_end": null,
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],
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"feature": "ENST00000959986.1",
"gene_hgnc_id": 3508,
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"protein_coding": true,
"protein_id": "ENSP00000630045.1",
"strand": true,
"transcript": "ENST00000959986.1",
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},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000925322.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595381.1",
"strand": true,
"transcript": "ENST00000925322.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000925319.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595378.1",
"strand": true,
"transcript": "ENST00000925319.1",
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},
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],
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"feature": "ENST00000925330.1",
"gene_hgnc_id": 3508,
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},
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],
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"feature": "ENST00000889477.1",
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},
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"consequences": [
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],
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"feature": "ENST00000889509.1",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559568.1",
"strand": true,
"transcript": "ENST00000889509.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013986.4",
"gene_hgnc_id": 3508,
"gene_symbol": "EWSR1",
"hgvs_c": "c.103-18C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_053733.2",
"strand": true,
"transcript": "NM_013986.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
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