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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: 13-19993187-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=19993187&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZMYM2",
"hgnc_id": 12989,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003453.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": 0.0693,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0112876296043396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7429,
"cdna_start": 309,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_197968.4",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610343.5",
"protein_coding": true,
"protein_id": "NP_932072.1",
"strand": true,
"transcript": "NM_197968.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7429,
"cdna_start": 309,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000610343.5",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_197968.4",
"protein_coding": true,
"protein_id": "ENSP00000479904.1",
"strand": true,
"transcript": "ENST00000610343.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5051,
"cdna_start": 300,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000382871.3",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372324.2",
"strand": true,
"transcript": "ENST00000382871.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10139,
"cdna_start": 305,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000382874.6",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372327.2",
"strand": true,
"transcript": "ENST00000382874.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 275,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 355,
"cds_end": null,
"cds_length": 829,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000620447.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483904.1",
"strand": true,
"transcript": "ENST00000620447.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6923,
"cdna_start": 284,
"cds_end": null,
"cds_length": 4155,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938944.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609003.1",
"strand": true,
"transcript": "ENST00000938944.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 286,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001190964.4",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177893.1",
"strand": true,
"transcript": "NM_001190964.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7547,
"cdna_start": 427,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001190965.4",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177894.1",
"strand": true,
"transcript": "NM_001190965.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7426,
"cdna_start": 306,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001353157.2",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340086.1",
"strand": true,
"transcript": "NM_001353157.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7340,
"cdna_start": 220,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001353159.2",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340088.1",
"strand": true,
"transcript": "NM_001353159.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7587,
"cdna_start": 467,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001353162.3",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340091.1",
"strand": true,
"transcript": "NM_001353162.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7384,
"cdna_start": 264,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001353164.2",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340093.1",
"strand": true,
"transcript": "NM_001353164.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7476,
"cdna_start": 356,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003453.6",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003444.1",
"strand": true,
"transcript": "NM_003453.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 320,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000875035.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545094.1",
"strand": true,
"transcript": "ENST00000875035.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 367,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875036.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545095.1",
"strand": true,
"transcript": "ENST00000875036.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 458,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875038.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545097.1",
"strand": true,
"transcript": "ENST00000875038.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": 347,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000875040.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545099.1",
"strand": true,
"transcript": "ENST00000875040.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 255,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000875041.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545100.1",
"strand": true,
"transcript": "ENST00000875041.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7488,
"cdna_start": 368,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938943.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609002.1",
"strand": true,
"transcript": "ENST00000938943.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 195,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938945.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609004.1",
"strand": true,
"transcript": "ENST00000938945.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1377,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 242,
"cds_end": null,
"cds_length": 4134,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938947.1",
"gene_hgnc_id": 12989,
"gene_symbol": "ZMYM2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Ala39Thr",
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