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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: 10-20812805-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20812805&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEBL",
"hgnc_id": 16932,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Ile828Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_006393.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 3336,
"alphamissense_prediction": null,
"alphamissense_score": 0.0747,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "NEBL-related disorder,Primary dilated cardiomyopathy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007567614316940308,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "I",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8925,
"cdna_start": 2588,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2482,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_006393.3",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Ile828Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377122.9",
"protein_coding": true,
"protein_id": "NP_006384.1",
"strand": false,
"transcript": "NM_006393.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "I",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8925,
"cdna_start": 2588,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2482,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000377122.9",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Ile828Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006393.3",
"protein_coding": true,
"protein_id": "ENSP00000366326.4",
"strand": false,
"transcript": "ENST00000377122.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 270,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 847,
"cds_end": null,
"cds_length": 813,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000417816.2",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393896.2",
"strand": false,
"transcript": "ENST00000417816.2",
"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": 1870,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000493005.5",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "n.1802A>G",
"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": "ENST00000493005.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "I",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4715,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2491,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000863069.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ile831Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533128.1",
"strand": false,
"transcript": "ENST00000863069.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 994,
"aa_ref": "I",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2422,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000863070.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Ile808Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533129.1",
"strand": false,
"transcript": "ENST00000863070.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 983,
"aa_ref": "I",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2389,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863068.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Ile797Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533127.1",
"strand": false,
"transcript": "ENST00000863068.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 983,
"aa_ref": "I",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2389,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963739.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Ile797Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633798.1",
"strand": false,
"transcript": "ENST00000963739.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 980,
"aa_ref": "I",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8221,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2380,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863062.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2380A>G",
"hgvs_p": "p.Ile794Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533121.1",
"strand": false,
"transcript": "ENST00000863062.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 977,
"aa_ref": "I",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 2481,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2371,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863067.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2371A>G",
"hgvs_p": "p.Ile791Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533126.1",
"strand": false,
"transcript": "ENST00000863067.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 946,
"aa_ref": "I",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2278,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000863065.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ile760Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533124.1",
"strand": false,
"transcript": "ENST00000863065.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 943,
"aa_ref": "I",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6875,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000863064.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Ile757Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533123.1",
"strand": false,
"transcript": "ENST00000863064.1",
"transcript_support_level": null
},
{
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"aa_length": 942,
"aa_ref": "I",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000963743.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2266A>G",
"hgvs_p": "p.Ile756Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633802.1",
"strand": false,
"transcript": "ENST00000963743.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 933,
"aa_ref": "I",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8023,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 2802,
"cds_start": 2482,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000863063.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Ile828Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533122.1",
"strand": false,
"transcript": "ENST00000863063.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 899,
"aa_ref": "I",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6764,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2380,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963741.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2380A>G",
"hgvs_p": "p.Ile794Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633800.1",
"strand": false,
"transcript": "ENST00000963741.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 886,
"aa_ref": "I",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7841,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000963740.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Ile700Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633799.1",
"strand": false,
"transcript": "ENST00000963740.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 871,
"aa_ref": "I",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000863066.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2296A>G",
"hgvs_p": "p.Ile766Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533125.1",
"strand": false,
"transcript": "ENST00000863066.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 855,
"aa_ref": "I",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6628,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000963742.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.2005A>G",
"hgvs_p": "p.Ile669Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633801.1",
"strand": false,
"transcript": "ENST00000963742.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6938,
"cdna_start": 751,
"cds_end": null,
"cds_length": 906,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377322.1",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364251.1",
"strand": false,
"transcript": "NM_001377322.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 270,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6941,
"cdna_start": 847,
"cds_end": null,
"cds_length": 813,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_213569.2",
"gene_hgnc_id": 16932,
"gene_symbol": "NEBL",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998734.1",
"strand": false,
"transcript": "NM_213569.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "I",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 714,
"cds_end": null,
"cds_length": 765,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377323.1",
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