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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: 10-56358925-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=56358925&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZWINT",
"hgnc_id": 13195,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_007057.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 203,
"alphamissense_prediction": null,
"alphamissense_score": 0.1325,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13594412803649902,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 526,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_007057.4",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373944.8",
"protein_coding": true,
"protein_id": "NP_008988.2",
"strand": false,
"transcript": "NM_007057.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 526,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373944.8",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007057.4",
"protein_coding": true,
"protein_id": "ENSP00000363055.3",
"strand": false,
"transcript": "ENST00000373944.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": 522,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000318387.7",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322850.3",
"strand": false,
"transcript": "ENST00000318387.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 288,
"aa_ref": "A",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 569,
"cds_end": null,
"cds_length": 867,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920699.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ala179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590758.1",
"strand": false,
"transcript": "ENST00000920699.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 278,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 521,
"cds_end": null,
"cds_length": 837,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899407.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569466.1",
"strand": false,
"transcript": "ENST00000899407.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 526,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032997.3",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_127490.1",
"strand": false,
"transcript": "NM_032997.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 540,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395405.5",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378801.1",
"strand": false,
"transcript": "ENST00000395405.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 536,
"cds_end": null,
"cds_length": 834,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899408.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569467.1",
"strand": false,
"transcript": "ENST00000899408.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 276,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 542,
"cds_end": null,
"cds_length": 831,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920701.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590760.1",
"strand": false,
"transcript": "ENST00000920701.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 276,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 509,
"cds_end": null,
"cds_length": 831,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955112.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625171.1",
"strand": false,
"transcript": "ENST00000955112.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 272,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 509,
"cds_end": null,
"cds_length": 819,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920702.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590761.1",
"strand": false,
"transcript": "ENST00000920702.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 489,
"cds_end": null,
"cds_length": 777,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920700.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ala149Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590759.1",
"strand": false,
"transcript": "ENST00000920700.1",
"transcript_support_level": null
},
{
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"aa_length": 258,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 472,
"cds_end": null,
"cds_length": 777,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 7,
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"exon_rank_end": null,
"feature": "ENST00000920709.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ala149Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590768.1",
"strand": false,
"transcript": "ENST00000920709.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 530,
"cds_end": null,
"cds_length": 735,
"cds_start": 503,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920708.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590767.1",
"strand": false,
"transcript": "ENST00000920708.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 236,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 536,
"cds_end": null,
"cds_length": 711,
"cds_start": 503,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899412.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569471.1",
"strand": false,
"transcript": "ENST00000899412.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 236,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 542,
"cds_end": null,
"cds_length": 711,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920697.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590756.1",
"strand": false,
"transcript": "ENST00000920697.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 513,
"cds_end": null,
"cds_length": 708,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920710.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590769.1",
"strand": false,
"transcript": "ENST00000920710.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 234,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 425,
"cds_end": null,
"cds_length": 705,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920698.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ala125Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590757.1",
"strand": false,
"transcript": "ENST00000920698.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 230,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 540,
"cds_end": null,
"cds_length": 693,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001005413.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005413.1",
"strand": false,
"transcript": "NM_001005413.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 807,
"cdna_start": 533,
"cds_end": null,
"cds_length": 693,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000361148.6",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354921.6",
"strand": false,
"transcript": "ENST00000361148.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 536,
"cds_end": null,
"cds_length": 693,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899410.1",
"gene_hgnc_id": 13195,
"gene_symbol": "ZWINT",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569469.1",
"strand": false,
"transcript": "ENST00000899410.1",
"transcript_support_level": null
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