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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: 11-46728138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46728138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "F2",
"hgnc_id": 3535,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 17,
"score": 17,
"transcript": "NM_000506.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 17,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8904,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "11",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Congenital prothrombin deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9858075380325317,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000506.5",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311907.10",
"protein_coding": true,
"protein_id": "NP_000497.1",
"strand": true,
"transcript": "NM_000506.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000311907.10",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000506.5",
"protein_coding": true,
"protein_id": "ENSP00000308541.5",
"strand": true,
"transcript": "ENST00000311907.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000862106.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532165.1",
"strand": true,
"transcript": "ENST00000862106.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862118.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532177.1",
"strand": true,
"transcript": "ENST00000862118.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862102.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532161.1",
"strand": true,
"transcript": "ENST00000862102.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862104.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532163.1",
"strand": true,
"transcript": "ENST00000862104.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1300,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862111.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532170.1",
"strand": true,
"transcript": "ENST00000862111.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862105.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532164.1",
"strand": true,
"transcript": "ENST00000862105.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862096.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532155.1",
"strand": true,
"transcript": "ENST00000862096.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862107.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Arg421Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532166.1",
"strand": true,
"transcript": "ENST00000862107.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862112.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532171.1",
"strand": true,
"transcript": "ENST00000862112.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862123.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532182.1",
"strand": true,
"transcript": "ENST00000862123.1",
"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": 1970,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "ENST00000862109.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532168.1",
"strand": true,
"transcript": "ENST00000862109.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862103.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532162.1",
"strand": true,
"transcript": "ENST00000862103.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862093.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Arg408Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532152.1",
"strand": true,
"transcript": "ENST00000862093.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862117.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Arg408Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532176.1",
"strand": true,
"transcript": "ENST00000862117.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862095.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532154.1",
"strand": true,
"transcript": "ENST00000862095.1",
"transcript_support_level": null
},
{
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"aa_length": 601,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862114.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532173.1",
"strand": true,
"transcript": "ENST00000862114.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862101.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532160.1",
"strand": true,
"transcript": "ENST00000862101.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862100.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532159.1",
"strand": true,
"transcript": "ENST00000862100.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862098.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
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