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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: 19-35762301-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35762301&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROSER3",
"hgnc_id": 25204,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001438802.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_score": -6,
"allele_count_reference_population": 61,
"alphamissense_prediction": null,
"alphamissense_score": 0.0892,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03317871689796448,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 724,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4836,
"cdna_start": 528,
"cds_end": null,
"cds_length": 2175,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367856.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646935.2",
"protein_coding": true,
"protein_id": "NP_001354785.1",
"strand": true,
"transcript": "NM_001367856.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 724,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4836,
"cdna_start": 528,
"cds_end": null,
"cds_length": 2175,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646935.2",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367856.1",
"protein_coding": true,
"protein_id": "ENSP00000496769.2",
"strand": true,
"transcript": "ENST00000646935.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1443,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396908.10",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "ENSP00000380116.5",
"strand": true,
"transcript": "ENST00000396908.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 194,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 772,
"cdna_start": 510,
"cds_end": null,
"cds_length": 585,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000537459.5",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "ENSP00000439886.2",
"strand": true,
"transcript": "ENST00000537459.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 193,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 522,
"cds_end": null,
"cds_length": 582,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000536950.5",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466822.1",
"strand": true,
"transcript": "ENST00000536950.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2388,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696041.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "ENSP00000512346.1",
"strand": true,
"transcript": "ENST00000696041.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 791,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2376,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696042.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "ENSP00000512347.1",
"strand": true,
"transcript": "ENST00000696042.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 730,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2193,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438802.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425731.1",
"strand": true,
"transcript": "NM_001438802.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 724,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 528,
"cds_end": null,
"cds_length": 2175,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395458.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "NP_001382387.1",
"strand": true,
"transcript": "NM_001395458.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 723,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2172,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395450.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382379.1",
"strand": true,
"transcript": "NM_001395450.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 713,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": 528,
"cds_end": null,
"cds_length": 2142,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438803.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "NP_001425732.1",
"strand": true,
"transcript": "NM_001438803.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 712,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2139,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395451.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382380.1",
"strand": true,
"transcript": "NM_001395451.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 702,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 258,
"cds_end": null,
"cds_length": 2109,
"cds_start": 188,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000696040.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512345.1",
"strand": true,
"transcript": "ENST00000696040.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 638,
"aa_ref": "A",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1917,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395452.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Ala77Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382381.1",
"strand": true,
"transcript": "NM_001395452.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 628,
"aa_ref": "A",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1887,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395453.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382382.1",
"strand": true,
"transcript": "NM_001395453.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 225,
"cds_end": null,
"cds_length": 1872,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438804.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ala62Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425733.1",
"strand": true,
"transcript": "NM_001438804.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 613,
"aa_ref": "A",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 228,
"cds_end": null,
"cds_length": 1842,
"cds_start": 188,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001395454.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382383.1",
"strand": true,
"transcript": "NM_001395454.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 480,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1443,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001039887.3",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "NP_001034976.2",
"strand": true,
"transcript": "NM_001039887.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1200,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395455.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382384.1",
"strand": true,
"transcript": "NM_001395455.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 528,
"cds_end": null,
"cds_length": 780,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395456.1",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"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": "NP_001382385.1",
"strand": true,
"transcript": "NM_001395456.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 826,
"cdna_start": 545,
"cds_end": null,
"cds_length": 766,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000301165.9",
"gene_hgnc_id": 25204,
"gene_symbol": "PROSER3",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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]
}