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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: 11-9832350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9832350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9832350,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000256190.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "NM_030962.4",
"protein_id": "NP_112224.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3526,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "ENST00000256190.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "ENST00000256190.13",
"protein_id": "ENSP00000256190.8",
"transcript_support_level": 1,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3526,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "NM_030962.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "NM_001386339.1",
"protein_id": "NP_001373268.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1881,
"cds_start": 3526,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "ENST00000689128.1",
"protein_id": "ENSP00000509587.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1881,
"cds_start": 3526,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "ENST00000675281.2",
"protein_id": "ENSP00000502491.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1874,
"cds_start": 3526,
"cds_end": null,
"cds_length": 5625,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3412C>T",
"hgvs_p": "p.Arg1138*",
"transcript": "ENST00000676387.2",
"protein_id": "ENSP00000502779.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1868,
"cds_start": 3412,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188*",
"transcript": "NM_001424318.1",
"protein_id": "NP_001411247.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3562,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 7880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188*",
"transcript": "NM_001425070.1",
"protein_id": "NP_001411999.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3562,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 7680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3520C>T",
"hgvs_p": "p.Arg1174*",
"transcript": "ENST00000689940.1",
"protein_id": "ENSP00000508452.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3520,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3388C>T",
"hgvs_p": "p.Arg1130*",
"transcript": "ENST00000689258.1",
"protein_id": "ENSP00000510475.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1828,
"cds_start": 3388,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188*",
"transcript": "NM_001425069.1",
"protein_id": "NP_001411998.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3562,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 7539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3397C>T",
"hgvs_p": "p.Arg1133*",
"transcript": "NM_001386342.1",
"protein_id": "NP_001373271.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3397,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 7321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3397C>T",
"hgvs_p": "p.Arg1133*",
"transcript": "ENST00000692716.1",
"protein_id": "ENSP00000509545.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3397,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3133C>T",
"hgvs_p": "p.Arg1045*",
"transcript": "ENST00000688344.1",
"protein_id": "ENSP00000509987.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000689597.1",
"protein_id": "ENSP00000510781.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2230,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000530741.2",
"protein_id": "ENSP00000432643.2",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2230,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "XM_047427657.1",
"protein_id": "XP_047283613.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1554,
"cds_start": 3526,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "XM_011520395.4",
"protein_id": "XP_011518697.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.3526C>T",
"hgvs_p": null,
"transcript": "ENST00000676324.2",
"protein_id": "ENSP00000502578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.697C>T",
"hgvs_p": null,
"transcript": "ENST00000689356.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*398C>T",
"hgvs_p": null,
"transcript": "ENST00000689674.1",
"protein_id": "ENSP00000510723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"transcript": "ENST00000690003.1",
"protein_id": "ENSP00000508748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*171C>T",
"hgvs_p": null,
"transcript": "ENST00000693181.1",
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{
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{
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{
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}
],
"gene_symbol": "SBF2",
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"dbsnp": "rs774667470",
"frequency_reference_population": 0.0000043373466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410446,
"gnomad_genomes_af": 0.00000657618,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.359,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000256190.13",
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}