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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: 10-129840312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=129840312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 129840312,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001375380.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala",
"transcript": "NM_001375380.1",
"protein_id": "NP_001362309.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 629,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440978.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375380.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala",
"transcript": "ENST00000440978.2",
"protein_id": "ENSP00000387543.2",
"transcript_support_level": 3,
"aa_start": 564,
"aa_end": null,
"aa_length": 629,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375380.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440978.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Ala519Ala",
"transcript": "ENST00000368648.8",
"protein_id": "ENSP00000357637.3",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 551,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368648.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Ala555Ala",
"transcript": "ENST00000904893.1",
"protein_id": "ENSP00000574952.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 620,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904893.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala",
"transcript": "NM_001375379.1",
"protein_id": "NP_001362308.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 596,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375379.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala",
"transcript": "ENST00000355311.10",
"protein_id": "ENSP00000347463.4",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 596,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355311.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1584G>A",
"hgvs_p": "p.Ala528Ala",
"transcript": "NM_001375389.1",
"protein_id": "NP_001362318.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 593,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375389.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Ala519Ala",
"transcript": "NM_001375390.1",
"protein_id": "NP_001362319.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 584,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375390.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Ala519Ala",
"transcript": "ENST00000962323.1",
"protein_id": "ENSP00000632382.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 584,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962323.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1584G>A",
"hgvs_p": "p.Ala528Ala",
"transcript": "NM_001375391.1",
"protein_id": "NP_001362320.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 560,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375391.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Ala519Ala",
"transcript": "NM_001005463.3",
"protein_id": "NP_001005463.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 551,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005463.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Ala492Ala",
"transcript": "NM_001375392.1",
"protein_id": "NP_001362321.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 524,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375392.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"transcript": "XM_006717740.3",
"protein_id": "XP_006717803.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 628,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717740.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Ala555Ala",
"transcript": "XM_005252667.3",
"protein_id": "XP_005252724.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 620,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252667.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala",
"transcript": "XM_006717741.4",
"protein_id": "XP_006717804.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 596,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717741.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Ala555Ala",
"transcript": "XM_005252669.3",
"protein_id": "XP_005252726.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 587,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252669.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1407G>A",
"hgvs_p": "p.Ala469Ala",
"transcript": "XM_011539574.2",
"protein_id": "XP_011537876.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 534,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539574.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1395G>A",
"hgvs_p": "p.Ala465Ala",
"transcript": "XM_006717744.3",
"protein_id": "XP_006717807.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 530,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717744.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1395G>A",
"hgvs_p": "p.Ala465Ala",
"transcript": "XM_017016027.1",
"protein_id": "XP_016871516.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 497,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016027.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1368G>A",
"hgvs_p": "p.Ala456Ala",
"transcript": "XM_047424961.1",
"protein_id": "XP_047280917.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424961.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Ala392Ala",
"transcript": "XM_011539575.3",
"protein_id": "XP_011537877.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 457,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539575.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"hgvs_c": "n.1229G>A",
"hgvs_p": null,
"transcript": "ENST00000675373.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000675373.1"
}
],
"gene_symbol": "EBF3",
"gene_hgnc_id": 19087,
"dbsnp": "rs779933101",
"frequency_reference_population": 0.000032062526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000340654,
"gnomad_genomes_af": 0.0000131378,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001375380.1",
"gene_symbol": "EBF3",
"hgnc_id": 19087,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Ala564Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}