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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: 10-129840320-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=129840320&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EBF3",
"hgnc_id": 19087,
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001375380.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9885,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.707539439201355,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001375380.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440978.2",
"protein_coding": true,
"protein_id": "NP_001362309.1",
"strand": false,
"transcript": "NM_001375380.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000440978.2",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375380.1",
"protein_coding": true,
"protein_id": "ENSP00000387543.2",
"strand": false,
"transcript": "ENST00000440978.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4829,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000368648.8",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Ala517Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357637.3",
"strand": false,
"transcript": "ENST00000368648.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 620,
"aa_ref": "A",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000904893.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Ala553Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574952.1",
"strand": false,
"transcript": "ENST00000904893.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001375379.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362308.1",
"strand": false,
"transcript": "NM_001375379.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000355311.10",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347463.4",
"strand": false,
"transcript": "ENST00000355311.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001375389.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Ala526Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362318.1",
"strand": false,
"transcript": "NM_001375389.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 584,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001375390.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Ala517Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362319.1",
"strand": false,
"transcript": "NM_001375390.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 584,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000962323.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Ala517Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632382.1",
"strand": false,
"transcript": "ENST00000962323.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 560,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001375391.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Ala526Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362320.1",
"strand": false,
"transcript": "NM_001375391.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001005463.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Ala517Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005463.1",
"strand": false,
"transcript": "NM_001005463.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "A",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001375392.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1468G>C",
"hgvs_p": "p.Ala490Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362321.1",
"strand": false,
"transcript": "NM_001375392.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 628,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006717740.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Ala561Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717803.1",
"strand": false,
"transcript": "XM_006717740.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 620,
"aa_ref": "A",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5079,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005252667.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Ala553Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252724.1",
"strand": false,
"transcript": "XM_005252667.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006717741.4",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1684G>C",
"hgvs_p": "p.Ala562Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717804.1",
"strand": false,
"transcript": "XM_006717741.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 587,
"aa_ref": "A",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005252669.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Ala553Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252726.1",
"strand": false,
"transcript": "XM_005252669.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011539574.2",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1399G>C",
"hgvs_p": "p.Ala467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537876.1",
"strand": false,
"transcript": "XM_011539574.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 530,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006717744.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Ala463Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717807.1",
"strand": false,
"transcript": "XM_006717744.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 497,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017016027.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Ala463Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871516.1",
"strand": false,
"transcript": "XM_017016027.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047424961.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1360G>C",
"hgvs_p": "p.Ala454Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280917.1",
"strand": false,
"transcript": "XM_047424961.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011539575.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.1168G>C",
"hgvs_p": "p.Ala390Pro",
"intron_rank": null,
"intron_rank_end": null,
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