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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: 10-129867197-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=129867197&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EBF3",
"hgnc_id": 19087,
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001375380.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "EBF3-AS1",
"hgnc_id": 56218,
"hgvs_c": "n.866A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000653993.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "10",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9512261152267456,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 629,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1890,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375380.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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": "H",
"aa_end": null,
"aa_length": 629,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1890,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000440978.2",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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": "H",
"aa_end": null,
"aa_length": 551,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4829,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1656,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000368648.8",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"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": "H",
"aa_end": null,
"aa_length": 620,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1863,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904893.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"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": "H",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1791,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375379.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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": "H",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1791,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355311.10",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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": "H",
"aa_end": null,
"aa_length": 593,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1782,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375389.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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": "H",
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"aa_length": 584,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1755,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375390.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"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": "H",
"aa_end": null,
"aa_length": 584,
"aa_ref": "L",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1755,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962323.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"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": "H",
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"aa_length": 560,
"aa_ref": "L",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1683,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375391.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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
},
{
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"aa_length": 551,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1656,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001005463.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"intron_rank": null,
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"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": "H",
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"aa_length": 524,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1575,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 15,
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"feature": "NM_001375392.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362321.1",
"strand": false,
"transcript": "NM_001375392.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1489,
"cds_end": null,
"cds_length": 1887,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006717740.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"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
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5079,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1863,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005252667.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252724.1",
"strand": false,
"transcript": "XM_005252667.3",
"transcript_support_level": null
},
{
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"aa_length": 596,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1791,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006717741.4",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717804.1",
"strand": false,
"transcript": "XM_006717741.4",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1764,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005252669.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005252726.1",
"strand": false,
"transcript": "XM_005252669.3",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006717744.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006717807.1",
"strand": false,
"transcript": "XM_006717744.3",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_start": 1489,
"cds_end": null,
"cds_length": 1494,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017016027.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.983T>A",
"hgvs_p": "p.Leu328His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016871516.1",
"strand": false,
"transcript": "XM_017016027.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1462,
"cds_end": null,
"cds_length": 1467,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047424961.1",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.956T>A",
"hgvs_p": "p.Leu319His",
"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": "H",
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"aa_length": 457,
"aa_ref": "L",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1374,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011539575.3",
"gene_hgnc_id": 19087,
"gene_symbol": "EBF3",
"hgvs_c": "c.467T>A",
"hgvs_p": "p.Leu156His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537877.1",
"strand": false,
"transcript": "XM_011539575.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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}