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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-17749482-CG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=17749482&ref=CG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SCML1",
"hgnc_id": 10580,
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001037540.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"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": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 585,
"cds_end": null,
"cds_length": 990,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001037540.3",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380041.8",
"protein_coding": true,
"protein_id": "NP_001032629.1",
"strand": true,
"transcript": "NM_001037540.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 585,
"cds_end": null,
"cds_length": 990,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380041.8",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001037540.3",
"protein_coding": true,
"protein_id": "ENSP00000369380.3",
"strand": true,
"transcript": "ENST00000380041.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 528,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380043.7",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369382.3",
"strand": true,
"transcript": "ENST00000380043.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 208,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": null,
"cds_end": null,
"cds_length": 627,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000380045.7",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.-83_-82delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369384.3",
"strand": true,
"transcript": "ENST00000380045.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 208,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": null,
"cds_end": null,
"cds_length": 627,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398080.5",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.-83_-82delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381154.1",
"strand": true,
"transcript": "ENST00000398080.5",
"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": 4615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000487842.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "n.2313_2314delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487842.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 476,
"cds_end": null,
"cds_length": 990,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895838.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565897.1",
"strand": true,
"transcript": "ENST00000895838.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 912,
"cds_end": null,
"cds_length": 990,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918260.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588319.1",
"strand": true,
"transcript": "ENST00000918260.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 504,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006746.6",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006737.2",
"strand": true,
"transcript": "NM_006746.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 439,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895837.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565896.1",
"strand": true,
"transcript": "ENST00000895837.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 596,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895839.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565898.1",
"strand": true,
"transcript": "ENST00000895839.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895840.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565899.1",
"strand": true,
"transcript": "ENST00000895840.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 402,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918259.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588318.1",
"strand": true,
"transcript": "ENST00000918259.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 146,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 817,
"cdna_start": 574,
"cds_end": null,
"cds_length": 443,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419185.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392587.1",
"strand": true,
"transcript": "ENST00000419185.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 588,
"cds_end": null,
"cds_length": 993,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005274578.3",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.284_285delCGinsTC",
"hgvs_p": "p.Ala95Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274635.1",
"strand": true,
"transcript": "XM_005274578.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9280,
"cdna_start": 6978,
"cds_end": null,
"cds_length": 993,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545564.4",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.284_285delCGinsTC",
"hgvs_p": "p.Ala95Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543866.1",
"strand": true,
"transcript": "XM_011545564.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 473,
"cds_end": null,
"cds_length": 993,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442348.1",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.284_285delCGinsTC",
"hgvs_p": "p.Ala95Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298304.1",
"strand": true,
"transcript": "XM_047442348.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9277,
"cdna_start": 6975,
"cds_end": null,
"cds_length": 990,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006724508.5",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.281_282delCGinsTC",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724571.1",
"strand": true,
"transcript": "XM_006724508.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9196,
"cdna_start": 6894,
"cds_end": null,
"cds_length": 909,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017029723.3",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.200_201delCGinsTC",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885212.1",
"strand": true,
"transcript": "XM_017029723.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 501,
"cds_end": null,
"cds_length": 906,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005274579.3",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.197_198delCGinsTC",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274636.1",
"strand": true,
"transcript": "XM_005274579.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9193,
"cdna_start": 6891,
"cds_end": null,
"cds_length": 906,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006724509.5",
"gene_hgnc_id": 10580,
"gene_symbol": "SCML1",
"hgvs_c": "c.197_198delCGinsTC",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724572.1",
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