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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: 3-93900854-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=93900854&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROS1",
"hgnc_id": 9456,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Cys258Tyr",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001314077.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_score": 9,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9363,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal recessive,Thrombophilia due to protein S deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9941978454589844,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 676,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 824,
"cds_end": null,
"cds_length": 2031,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000313.4",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394236.9",
"protein_coding": true,
"protein_id": "NP_000304.2",
"strand": false,
"transcript": "NM_000313.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 676,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 824,
"cds_end": null,
"cds_length": 2031,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000394236.9",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000313.4",
"protein_coding": true,
"protein_id": "ENSP00000377783.3",
"strand": false,
"transcript": "ENST00000394236.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 661,
"aa_ref": "C",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1986,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000407433.6",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Cys211Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385794.2",
"strand": false,
"transcript": "ENST00000407433.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 708,
"aa_ref": "C",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 920,
"cds_end": null,
"cds_length": 2127,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001314077.2",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Cys258Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001301006.1",
"strand": false,
"transcript": "NM_001314077.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 708,
"aa_ref": "C",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 957,
"cds_end": null,
"cds_length": 2127,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000650591.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Cys258Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497376.1",
"strand": false,
"transcript": "ENST00000650591.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 693,
"aa_ref": "C",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2082,
"cds_start": 773,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869621.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Cys258Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539680.1",
"strand": false,
"transcript": "ENST00000869621.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 681,
"aa_ref": "C",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2046,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948247.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Cys231Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618306.1",
"strand": false,
"transcript": "ENST00000948247.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 676,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 761,
"cds_end": null,
"cds_length": 2031,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000348974.5",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330021.7",
"strand": false,
"transcript": "ENST00000348974.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 674,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 813,
"cds_end": null,
"cds_length": 2025,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948248.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618307.1",
"strand": false,
"transcript": "ENST00000948248.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 673,
"aa_ref": "C",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2022,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000869623.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Cys223Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539682.1",
"strand": false,
"transcript": "ENST00000869623.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 662,
"aa_ref": "C",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1989,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648853.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Cys212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497262.1",
"strand": false,
"transcript": "ENST00000648853.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 661,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1986,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000869617.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539676.1",
"strand": false,
"transcript": "ENST00000869617.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 647,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1944,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869620.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Cys197Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539679.1",
"strand": false,
"transcript": "ENST00000869620.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 632,
"aa_ref": "C",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1899,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869619.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Cys197Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539678.1",
"strand": false,
"transcript": "ENST00000869619.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 632,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1899,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948246.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Cys182Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618305.1",
"strand": false,
"transcript": "ENST00000948246.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 623,
"aa_ref": "C",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1872,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869625.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Cys173Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539684.1",
"strand": false,
"transcript": "ENST00000869625.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 620,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1863,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000869615.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539674.1",
"strand": false,
"transcript": "ENST00000869615.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 615,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3378,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1848,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869614.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Cys165Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539673.1",
"strand": false,
"transcript": "ENST00000869614.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 591,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1776,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869622.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Cys141Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539681.1",
"strand": false,
"transcript": "ENST00000869622.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 586,
"aa_ref": "C",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1761,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869618.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Cys136Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539677.1",
"strand": false,
"transcript": "ENST00000869618.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 556,
"aa_ref": "C",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1671,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647936.1",
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}