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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: 15-28111760-ATCTTAGTGTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28111760&ref=ATCTTAGTGTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"frameshift_variant",
"stop_lost"
],
"gene_symbol": "HERC2",
"hgnc_id": 4868,
"hgvs_c": "c.14497_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4833fs",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_004667.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4834,
"aa_ref": "GH*",
"aa_start": 4833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": 14643,
"cds_end": null,
"cds_length": 14505,
"cds_start": 14497,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "NM_004667.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14497_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4833fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261609.13",
"protein_coding": true,
"protein_id": "NP_004658.3",
"strand": false,
"transcript": "NM_004667.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4834,
"aa_ref": "GH*",
"aa_start": 4833,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": 14643,
"cds_end": null,
"cds_length": 14505,
"cds_start": 14497,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "ENST00000261609.13",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14497_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4833fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004667.6",
"protein_coding": true,
"protein_id": "ENSP00000261609.8",
"strand": false,
"transcript": "ENST00000261609.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": null,
"cds_end": null,
"cds_length": 14505,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "NM_004667.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14497_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261609.13",
"protein_coding": true,
"protein_id": "NP_004658.3",
"strand": false,
"transcript": "NM_004667.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": null,
"cds_end": null,
"cds_length": 14505,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "ENST00000261609.13",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14497_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004667.6",
"protein_coding": true,
"protein_id": "ENSP00000261609.8",
"strand": false,
"transcript": "ENST00000261609.13",
"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": 2114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000566635.5",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "n.1622_1632delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000566635.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4829,
"aa_ref": "GH*",
"aa_start": 4828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15349,
"cdna_start": 14628,
"cds_end": null,
"cds_length": 14490,
"cds_start": 14482,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "XM_006720726.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14482_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4828fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720789.1",
"strand": false,
"transcript": "XM_006720726.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4825,
"aa_ref": "GH*",
"aa_start": 4824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15207,
"cdna_start": 14486,
"cds_end": null,
"cds_length": 14478,
"cds_start": 14470,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_047433206.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14470_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4824fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289162.1",
"strand": false,
"transcript": "XM_047433206.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": "GH*",
"aa_start": 4795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15476,
"cdna_start": 14755,
"cds_end": null,
"cds_length": 14391,
"cds_start": 14383,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_005268276.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4795fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268333.1",
"strand": false,
"transcript": "XM_005268276.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": "GH*",
"aa_start": 4795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15284,
"cdna_start": 14563,
"cds_end": null,
"cds_length": 14391,
"cds_start": 14383,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_017022695.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4795fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878184.1",
"strand": false,
"transcript": "XM_017022695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": "GH*",
"aa_start": 4795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15181,
"cdna_start": 14460,
"cds_end": null,
"cds_length": 14391,
"cds_start": 14383,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_017022696.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4795fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878185.1",
"strand": false,
"transcript": "XM_017022696.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4748,
"aa_ref": "GH*",
"aa_start": 4747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15106,
"cdna_start": 14385,
"cds_end": null,
"cds_length": 14247,
"cds_start": 14239,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 91,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006720727.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14239_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4747fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720790.1",
"strand": false,
"transcript": "XM_006720727.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4673,
"aa_ref": "GH*",
"aa_start": 4672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14843,
"cdna_start": 14122,
"cds_end": null,
"cds_length": 14022,
"cds_start": 14014,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 89,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_047433207.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14014_*2delGGACACTAAGA",
"hgvs_p": "p.Gly4672fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289163.1",
"strand": false,
"transcript": "XM_047433207.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2556,
"aa_ref": "GH*",
"aa_start": 2555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8667,
"cdna_start": 7946,
"cds_end": null,
"cds_length": 7671,
"cds_start": 7663,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_017022697.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.7663_*2delGGACACTAAGA",
"hgvs_p": "p.Gly2555fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878186.1",
"strand": false,
"transcript": "XM_017022697.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2556,
"aa_ref": "GH*",
"aa_start": 2555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8580,
"cdna_start": 7859,
"cds_end": null,
"cds_length": 7671,
"cds_start": 7663,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_017022698.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.7663_*2delGGACACTAAGA",
"hgvs_p": "p.Gly2555fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878187.1",
"strand": false,
"transcript": "XM_017022698.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4829,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15349,
"cdna_start": null,
"cds_end": null,
"cds_length": 14490,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "XM_006720726.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14482_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720789.1",
"strand": false,
"transcript": "XM_006720726.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4825,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15207,
"cdna_start": null,
"cds_end": null,
"cds_length": 14478,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_047433206.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14470_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289162.1",
"strand": false,
"transcript": "XM_047433206.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15476,
"cdna_start": null,
"cds_end": null,
"cds_length": 14391,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_005268276.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268333.1",
"strand": false,
"transcript": "XM_005268276.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15284,
"cdna_start": null,
"cds_end": null,
"cds_length": 14391,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_017022695.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878184.1",
"strand": false,
"transcript": "XM_017022695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4796,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15181,
"cdna_start": null,
"cds_end": null,
"cds_length": 14391,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 92,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_017022696.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14383_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878185.1",
"strand": false,
"transcript": "XM_017022696.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4748,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15106,
"cdna_start": null,
"cds_end": null,
"cds_length": 14247,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 91,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006720727.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.14239_*2delGGACACTAAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720790.1",
"strand": false,
"transcript": "XM_006720727.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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