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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: 19-58562226-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58562226&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MZF1",
"hgnc_id": 13108,
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003422.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MZF1-AS1",
"hgnc_id": 51271,
"hgvs_c": "n.185+2817G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000600534.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3191,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"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": 0.12833672761917114,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_198055.2",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215057.7",
"protein_coding": true,
"protein_id": "NP_932172.1",
"strand": false,
"transcript": "NM_198055.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000215057.7",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198055.2",
"protein_coding": true,
"protein_id": "ENSP00000215057.1",
"strand": false,
"transcript": "ENST00000215057.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000599369.5",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469493.1",
"strand": false,
"transcript": "ENST00000599369.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000594234.5",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.*934C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469378.1",
"strand": false,
"transcript": "ENST00000594234.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"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": "ENST00000600534.1",
"gene_hgnc_id": 51271,
"gene_symbol": "MZF1-AS1",
"hgvs_c": "n.185+2817G>T",
"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": "ENST00000600534.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 749,
"aa_ref": "P",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894440.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2096C>A",
"hgvs_p": "p.Pro699His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564499.1",
"strand": false,
"transcript": "ENST00000894440.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003422.3",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003413.2",
"strand": false,
"transcript": "NM_003422.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894435.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564494.1",
"strand": false,
"transcript": "ENST00000894435.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 4132,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894437.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564496.1",
"strand": false,
"transcript": "ENST00000894437.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894439.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564498.1",
"strand": false,
"transcript": "ENST00000894439.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894442.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564501.1",
"strand": false,
"transcript": "ENST00000894442.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894443.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564502.1",
"strand": false,
"transcript": "ENST00000894443.1",
"transcript_support_level": null
},
{
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"aa_length": 734,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894444.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564503.1",
"strand": false,
"transcript": "ENST00000894444.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894445.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564504.1",
"strand": false,
"transcript": "ENST00000894445.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 4029,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920164.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590223.1",
"strand": false,
"transcript": "ENST00000920164.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920165.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590224.1",
"strand": false,
"transcript": "ENST00000920165.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 734,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958727.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628786.1",
"strand": false,
"transcript": "ENST00000958727.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958728.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628787.1",
"strand": false,
"transcript": "ENST00000958728.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958729.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628788.1",
"strand": false,
"transcript": "ENST00000958729.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958730.1",
"gene_hgnc_id": 13108,
"gene_symbol": "MZF1",
"hgvs_c": "c.2051C>A",
"hgvs_p": "p.Pro684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628789.1",
"strand": false,
"transcript": "ENST00000958730.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 723,
"aa_ref": "P",
"aa_start": 673,
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}
],
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}
]
}