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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-111736791-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111736791&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111736791,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001099922.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2607G>A",
"hgvs_p": "p.Ala869Ala",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099922.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2607G>A",
"hgvs_p": "p.Ala869Ala",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 869,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394780.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"transcript": "ENST00000927365.1",
"protein_id": "ENSP00000597424.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2583,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927365.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2433G>A",
"hgvs_p": "p.Ala811Ala",
"transcript": "ENST00000927366.1",
"protein_id": "ENSP00000597425.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927366.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2373G>A",
"hgvs_p": "p.Ala791Ala",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2373,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257231.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2607G>A",
"hgvs_p": "p.Ala869Ala",
"transcript": "NM_001324292.2",
"protein_id": "NP_001311221.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324292.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2433G>A",
"hgvs_p": "p.Ala811Ala",
"transcript": "ENST00000623622.2",
"protein_id": "ENSP00000485624.2",
"transcript_support_level": 5,
"aa_start": 811,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623622.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2295G>A",
"hgvs_p": "p.Ala765Ala",
"transcript": "NM_001257230.2",
"protein_id": "NP_001244159.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 954,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257230.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2295G>A",
"hgvs_p": "p.Ala765Ala",
"transcript": "NM_001257234.2",
"protein_id": "NP_001244163.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 954,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257234.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2295G>A",
"hgvs_p": "p.Ala765Ala",
"transcript": "NM_001257237.2",
"protein_id": "NP_001244166.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 954,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257237.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2295G>A",
"hgvs_p": "p.Ala765Ala",
"transcript": "ENST00000436609.5",
"protein_id": "ENSP00000392990.2",
"transcript_support_level": 5,
"aa_start": 765,
"aa_end": null,
"aa_length": 954,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436609.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Ala707Ala",
"transcript": "NM_001324293.1",
"protein_id": "NP_001311222.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 896,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324293.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2679G>A",
"hgvs_p": "p.Ala893Ala",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531028.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2655G>A",
"hgvs_p": "p.Ala885Ala",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2655,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029846.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2640G>A",
"hgvs_p": "p.Ala880Ala",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029847.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2583,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442520.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2568G>A",
"hgvs_p": "p.Ala856Ala",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724693.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2508G>A",
"hgvs_p": "p.Ala836Ala",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442521.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2679G>A",
"hgvs_p": "p.Ala893Ala",
"transcript": "XM_011531030.3",
"protein_id": "XP_011529332.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531030.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Ala812Ala",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442522.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2367G>A",
"hgvs_p": "p.Ala789Ala",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2367,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724697.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2367G>A",
"hgvs_p": "p.Ala789Ala",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2367,
"cds_end": null,
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"verdict": "Benign",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "not specified|not provided|Developmental and epileptic encephalopathy, 36",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}