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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: X-47447974-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47447974&ref=C&alt=A&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": "ZNF41",
"hgnc_id": 13107,
"hgvs_c": "c.1922G>T",
"hgvs_p": "p.Arg641Ile",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001324155.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5644,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "X",
"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": 0.21677181124687195,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": 2203,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324144.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684689.1",
"protein_coding": true,
"protein_id": "NP_001311073.1",
"strand": false,
"transcript": "NM_001324144.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": 2203,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000684689.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001324144.2",
"protein_coding": true,
"protein_id": "ENSP00000508254.1",
"strand": false,
"transcript": "ENST00000684689.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000313116.11",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315173.7",
"strand": false,
"transcript": "ENST00000313116.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000377065.8",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366265.4",
"strand": false,
"transcript": "ENST00000377065.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1922,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324155.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1922G>T",
"hgvs_p": "p.Arg641Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311084.1",
"strand": false,
"transcript": "NM_001324155.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1922,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000915706.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1922G>T",
"hgvs_p": "p.Arg641Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585765.1",
"strand": false,
"transcript": "ENST00000915706.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5401,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1922,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968634.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1922G>T",
"hgvs_p": "p.Arg641Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638693.1",
"strand": false,
"transcript": "ENST00000968634.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324154.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1898G>T",
"hgvs_p": "p.Arg633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311083.1",
"strand": false,
"transcript": "NM_001324154.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915708.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1898G>T",
"hgvs_p": "p.Arg633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585767.1",
"strand": false,
"transcript": "ENST00000915708.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5456,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968632.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1898G>T",
"hgvs_p": "p.Arg633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638691.1",
"strand": false,
"transcript": "ENST00000968632.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 813,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968640.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1898G>T",
"hgvs_p": "p.Arg633Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638699.1",
"strand": false,
"transcript": "ENST00000968640.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 789,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5039,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "NM_001324151.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1826G>T",
"hgvs_p": "p.Arg609Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311080.1",
"strand": false,
"transcript": "NM_001324151.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4949,
"cdna_start": 2153,
"cds_end": null,
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"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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"feature": "NM_001324153.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1826G>T",
"hgvs_p": "p.Arg609Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311082.1",
"strand": false,
"transcript": "NM_001324153.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 781,
"aa_ref": "R",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324142.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1802G>T",
"hgvs_p": "p.Arg601Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311071.1",
"strand": false,
"transcript": "NM_001324142.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": 2219,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324148.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1802G>T",
"hgvs_p": "p.Arg601Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311077.1",
"strand": false,
"transcript": "NM_001324148.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4909,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324140.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311069.1",
"strand": false,
"transcript": "NM_001324140.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 779,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 2340,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324147.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001311076.1",
"strand": false,
"transcript": "NM_001324147.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2301,
"cds_end": null,
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"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324150.2",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311079.1",
"strand": false,
"transcript": "NM_001324150.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 2221,
"cds_end": null,
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"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "NM_007130.4",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009061.1",
"strand": false,
"transcript": "NM_007130.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_153380.3",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_700359.1",
"strand": false,
"transcript": "NM_153380.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894174.1",
"gene_hgnc_id": 13107,
"gene_symbol": "ZNF41",
"hgvs_c": "c.1796G>T",
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