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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: 11-66566044-GCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66566044&ref=GCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66566044,
"ref": "GCC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_003793.4",
"consequences": [
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "NM_003793.4",
"protein_id": "NP_003784.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 484,
"cds_start": 843,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310325.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003793.4"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000310325.10",
"protein_id": "ENSP00000310832.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 484,
"cds_start": 843,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003793.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310325.10"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000679347.1",
"protein_id": "ENSP00000503676.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 505,
"cds_start": 843,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679347.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000677005.1",
"protein_id": "ENSP00000503238.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 504,
"cds_start": 843,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677005.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.885_886delGG",
"hgvs_p": "p.Ala296fs",
"transcript": "ENST00000677587.1",
"protein_id": "ENSP00000503791.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 498,
"cds_start": 885,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677587.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000678872.1",
"protein_id": "ENSP00000503425.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 492,
"cds_start": 843,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678872.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.840_841delGG",
"hgvs_p": "p.Ala281fs",
"transcript": "ENST00000524994.6",
"protein_id": "ENSP00000433082.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 483,
"cds_start": 840,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524994.6"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000678471.1",
"protein_id": "ENSP00000502949.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 483,
"cds_start": 843,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678471.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.834_835delGG",
"hgvs_p": "p.Ala279fs",
"transcript": "ENST00000677896.1",
"protein_id": "ENSP00000504605.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 481,
"cds_start": 834,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677896.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000679024.1",
"protein_id": "ENSP00000503506.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 479,
"cds_start": 843,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679024.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.828_829delGG",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000942857.1",
"protein_id": "ENSP00000612916.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 479,
"cds_start": 828,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942857.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.771_772delGG",
"hgvs_p": "p.Ala258fs",
"transcript": "ENST00000678305.1",
"protein_id": "ENSP00000504383.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 460,
"cds_start": 771,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678305.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.768_769delGG",
"hgvs_p": "p.Ala257fs",
"transcript": "ENST00000679160.1",
"protein_id": "ENSP00000503972.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 459,
"cds_start": 768,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679160.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000878093.1",
"protein_id": "ENSP00000548152.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 457,
"cds_start": 843,
"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": "ENST00000878093.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.744_745delGG",
"hgvs_p": "p.Ala249fs",
"transcript": "ENST00000878097.1",
"protein_id": "ENSP00000548156.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 451,
"cds_start": 744,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878097.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs",
"transcript": "ENST00000942856.1",
"protein_id": "ENSP00000612915.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 432,
"cds_start": 843,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942856.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.633_634delGG",
"hgvs_p": "p.Ala212fs",
"transcript": "ENST00000878095.1",
"protein_id": "ENSP00000548154.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 414,
"cds_start": 633,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878095.1"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.567_568delGG",
"hgvs_p": "p.Ala190fs",
"transcript": "ENST00000526010.2",
"protein_id": "ENSP00000435822.2",
"transcript_support_level": 4,
"aa_start": 189,
"aa_end": null,
"aa_length": 392,
"cds_start": 567,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526010.2"
},
{
"aa_ref": "GA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.663_664delGG",
"hgvs_p": "p.Ala222fs",
"transcript": "XM_011545328.3",
"protein_id": "XP_011543630.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 424,
"cds_start": 663,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545328.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.798+45_798+46delGG",
"hgvs_p": null,
"transcript": "ENST00000878096.1",
"protein_id": "ENSP00000548155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878096.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.835+8_835+9delGG",
"hgvs_p": null,
"transcript": "ENST00000878094.1",
"protein_id": "ENSP00000548153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "n.*37_*38delGG",
"hgvs_p": null,
"transcript": "ENST00000525733.6",
"protein_id": "ENSP00000434936.2",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000525733.6"
},
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{
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],
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],
"gene_symbol": "CTSF",
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"dbsnp": "rs1555058286",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.578,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"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": "NM_003793.4",
"gene_symbol": "CTSF",
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"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.843_844delGG",
"hgvs_p": "p.Ala282fs"
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis 13",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 13",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}