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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: 11-772503-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=772503&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GATD1",
"hgnc_id": 26616,
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_182612.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 399,
"cds_end": null,
"cds_length": 663,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182612.4",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319863.13",
"protein_coding": true,
"protein_id": "NP_872418.1",
"strand": false,
"transcript": "NM_182612.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 399,
"cds_end": null,
"cds_length": 663,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319863.13",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182612.4",
"protein_coding": true,
"protein_id": "ENSP00000321691.8",
"strand": false,
"transcript": "ENST00000319863.13",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 250,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 790,
"cdna_start": 383,
"cds_end": null,
"cds_length": 753,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397472.6",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380612.2",
"strand": false,
"transcript": "ENST00000397472.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 184,
"aa_ref": "G",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": 279,
"cds_end": null,
"cds_length": 555,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524550.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.265_266delGGinsTC",
"hgvs_p": "p.Gly89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431183.1",
"strand": false,
"transcript": "ENST00000524550.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529966.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "n.317_318delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529966.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1273,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532320.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "n.319_320delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532320.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532839.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "n.318_319delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532839.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000534603.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "n.*104_*105delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436861.1",
"strand": false,
"transcript": "ENST00000534603.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000534603.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "n.*104_*105delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436861.1",
"strand": false,
"transcript": "ENST00000534603.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 219,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 399,
"cds_end": null,
"cds_length": 660,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318821.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305750.1",
"strand": false,
"transcript": "NM_001318821.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 186,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 399,
"cds_end": null,
"cds_length": 561,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410955.1",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397884.1",
"strand": false,
"transcript": "NM_001410955.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 186,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": 399,
"cds_end": null,
"cds_length": 561,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526325.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433322.1",
"strand": false,
"transcript": "ENST00000526325.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 184,
"aa_ref": "G",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 291,
"cds_end": null,
"cds_length": 555,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318824.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.265_266delGGinsTC",
"hgvs_p": "p.Gly89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305753.1",
"strand": false,
"transcript": "NM_001318824.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 183,
"aa_ref": "G",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 291,
"cds_end": null,
"cds_length": 552,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318820.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.265_266delGGinsTC",
"hgvs_p": "p.Gly89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305749.1",
"strand": false,
"transcript": "NM_001318820.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 322,
"cds_end": null,
"cds_length": 513,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318818.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.223_224delGGinsTC",
"hgvs_p": "p.Gly75Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305747.1",
"strand": false,
"transcript": "NM_001318818.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4375,
"cdna_start": 322,
"cds_end": null,
"cds_length": 510,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318823.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.223_224delGGinsTC",
"hgvs_p": "p.Gly75Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305752.1",
"strand": false,
"transcript": "NM_001318823.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 162,
"aa_ref": "G",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": 188,
"cds_end": null,
"cds_length": 489,
"cds_start": 187,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528309.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.187_188delGGinsTC",
"hgvs_p": "p.Gly63Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437068.1",
"strand": false,
"transcript": "ENST00000528309.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 144,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 457,
"cdna_start": 146,
"cds_end": null,
"cds_length": 435,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526650.5",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.145_146delGGinsTC",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434839.1",
"strand": false,
"transcript": "ENST00000526650.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 133,
"aa_ref": "G",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 214,
"cds_end": null,
"cds_length": 402,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318822.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.115_116delGGinsTC",
"hgvs_p": "p.Gly39Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305751.1",
"strand": false,
"transcript": "NM_001318822.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 210,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 399,
"cds_end": null,
"cds_length": 633,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017662.2",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873151.1",
"strand": false,
"transcript": "XM_017017662.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 189,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4560,
"cdna_start": 399,
"cds_end": null,
"cds_length": 570,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011520064.3",
"gene_hgnc_id": 26616,
"gene_symbol": "GATD1",
"hgvs_c": "c.373_374delGGinsTC",
"hgvs_p": "p.Gly125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518366.1",
"strand": false,
"transcript": "XM_011520064.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 153,
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