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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: X-111708281-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111708281&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111708281,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1137,
"cds_start": 638,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 1137,
"cds_start": 638,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 1059,
"cds_start": 404,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "NM_001324292.2",
"protein_id": "NP_001311221.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1058,
"cds_start": 638,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "ENST00000623622.2",
"protein_id": "ENSP00000485624.2",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 1000,
"cds_start": 638,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "NM_001257230.2",
"protein_id": "NP_001244159.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 954,
"cds_start": 326,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "NM_001257234.2",
"protein_id": "NP_001244163.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 954,
"cds_start": 326,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "NM_001257237.2",
"protein_id": "NP_001244166.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 954,
"cds_start": 326,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "ENST00000436609.5",
"protein_id": "ENSP00000392990.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 954,
"cds_start": 326,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "NM_001324293.1",
"protein_id": "NP_001311222.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 896,
"cds_start": 326,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1161,
"cds_start": 638,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1153,
"cds_start": 638,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1148,
"cds_start": 638,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1129,
"cds_start": 638,
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"cdna_start": 687,
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"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1124,
"cds_start": 638,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 213,
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"cds_start": 638,
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"cdna_start": 687,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_011531030.3",
"protein_id": "XP_011529332.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1082,
"cds_start": 638,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1080,
"cds_start": 638,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
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"cds_start": 326,
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
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"cds_start": 326,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1057,
"cds_start": 326,
"cds_end": null,
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"cdna_start": 812,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Ser109Asn",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1057,
"cds_start": 326,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.326G>A",
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],
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"computational_score_selected": 0.013918280601501465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
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"revel_score": 0.08,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.826,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394780.8",
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"effects": [
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],
"inheritance_mode": "XL",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Ser213Asn"
},
{
"score": -16,
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"criteria": [
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000430794.1",
"gene_symbol": "ALG13-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " 36,ALG13-related disorder,Developmental and epileptic encephalopathy,Inborn genetic diseases,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Developmental and epileptic encephalopathy, 36|not specified|Inborn genetic diseases|ALG13-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}