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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: 19-57491451-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57491451&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF419",
"hgnc_id": 20648,
"hgvs_c": "c.73-17T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001098491.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000268107",
"hgnc_id": null,
"hgvs_c": "n.34-20T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000601674.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024691.4",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-20T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221735.12",
"protein_coding": true,
"protein_id": "NP_078967.3",
"strand": true,
"transcript": "NM_024691.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000221735.12",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-20T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024691.4",
"protein_coding": true,
"protein_id": "ENSP00000221735.7",
"strand": true,
"transcript": "ENST00000221735.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424930.6",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-17T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388864.1",
"strand": true,
"transcript": "ENST00000424930.6",
"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": 2403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000523439.1",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "n.265-20T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000523439.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601674.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000268107",
"hgvs_c": "n.34-20T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471625.1",
"strand": true,
"transcript": "ENST00000601674.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098491.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-17T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091961.1",
"strand": true,
"transcript": "NM_001098491.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935995.1",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-17T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606054.1",
"strand": true,
"transcript": "ENST00000935995.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098492.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-17T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091962.1",
"strand": true,
"transcript": "NM_001098492.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426954.6",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-17T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390916.1",
"strand": true,
"transcript": "ENST00000426954.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 497,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": null,
"cds_end": null,
"cds_length": 1494,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098493.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-20T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091963.1",
"strand": true,
"transcript": "NM_001098493.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 497,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1494,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000442920.6",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-20T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414709.2",
"strand": true,
"transcript": "ENST00000442920.6",
"transcript_support_level": 2
},
{
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"aa_length": 478,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098494.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-17T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091964.1",
"strand": true,
"transcript": "NM_001098494.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000347466.10",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-17T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299860.9",
"strand": true,
"transcript": "ENST00000347466.10",
"transcript_support_level": 2
},
{
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"aa_ref": 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": 1434,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "NM_001291743.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-20T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001278672.1",
"strand": true,
"transcript": "NM_001291743.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098495.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-17T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091965.1",
"strand": true,
"transcript": "NM_001098495.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098496.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-20T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091966.1",
"strand": true,
"transcript": "NM_001098496.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000415379.6",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-20T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000392129.2",
"strand": true,
"transcript": "ENST00000415379.6",
"transcript_support_level": 2
},
{
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"consequences": [
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],
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"feature": "ENST00000962341.1",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-62T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000632400.1",
"strand": true,
"transcript": "ENST00000962341.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "NM_001291744.2",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.-96-17T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001278673.1",
"strand": true,
"transcript": "NM_001291744.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": null,
"cds_end": null,
"cds_length": 520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521137.1",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.73-20T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429628.1",
"strand": true,
"transcript": "ENST00000521137.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": 363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521754.5",
"gene_hgnc_id": 20648,
"gene_symbol": "ZNF419",
"hgvs_c": "c.34-17T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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