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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: 12-48768609-ATT-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48768609&ref=ATT&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADCY6",
"hgnc_id": 237,
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015270.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "SPMIP11",
"hgnc_id": 48628,
"hgvs_c": "n.558-1479_558-1477delATTinsGGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_002957306.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"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": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 3677,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015270.5",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357869.8",
"protein_coding": true,
"protein_id": "NP_056085.1",
"strand": false,
"transcript": "NM_015270.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 3677,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357869.8",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015270.5",
"protein_coding": true,
"protein_id": "ENSP00000350536.4",
"strand": false,
"transcript": "ENST00000357869.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": 4184,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307885.4",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311405.4",
"strand": false,
"transcript": "ENST00000307885.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "N",
"aa_start": 1190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6140,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 3588,
"cds_start": 3568,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960700.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3568_3570delAATinsTCC",
"hgvs_p": "p.Asn1190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630759.1",
"strand": false,
"transcript": "ENST00000960700.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6708,
"cdna_start": 4293,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001390831.2",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377760.1",
"strand": false,
"transcript": "NM_001390831.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6021,
"cdna_start": 3606,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412819.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399748.1",
"strand": false,
"transcript": "NM_001412819.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412820.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399749.1",
"strand": false,
"transcript": "NM_001412820.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412821.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399750.1",
"strand": false,
"transcript": "NM_001412821.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412822.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399751.1",
"strand": false,
"transcript": "NM_001412822.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6082,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873895.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543954.1",
"strand": false,
"transcript": "ENST00000873895.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5953,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911287.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581346.1",
"strand": false,
"transcript": "ENST00000911287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6128,
"cdna_start": 3717,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960699.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630758.1",
"strand": false,
"transcript": "ENST00000960699.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": 3624,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960708.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630767.1",
"strand": false,
"transcript": "ENST00000960708.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5955,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960709.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3487_3489delAATinsTCC",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630768.1",
"strand": false,
"transcript": "ENST00000960709.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "N",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3475,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960707.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3475_3477delAATinsTCC",
"hgvs_p": "p.Asn1159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630766.1",
"strand": false,
"transcript": "ENST00000960707.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "N",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5991,
"cdna_start": 3580,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960703.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3433_3435delAATinsTCC",
"hgvs_p": "p.Asn1145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630762.1",
"strand": false,
"transcript": "ENST00000960703.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "N",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": 3577,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960698.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3412_3414delAATinsTCC",
"hgvs_p": "p.Asn1138Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630757.1",
"strand": false,
"transcript": "ENST00000960698.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "N",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3429,
"cds_start": 3409,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960706.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3409_3411delAATinsTCC",
"hgvs_p": "p.Asn1137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630765.1",
"strand": false,
"transcript": "ENST00000960706.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "N",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5928,
"cdna_start": 3517,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3370,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960704.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3370_3372delAATinsTCC",
"hgvs_p": "p.Asn1124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630763.1",
"strand": false,
"transcript": "ENST00000960704.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "N",
"aa_start": 1110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 3518,
"cds_end": null,
"cds_length": 3348,
"cds_start": 3328,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001390830.1",
"gene_hgnc_id": 237,
"gene_symbol": "ADCY6",
"hgvs_c": "c.3328_3330delAATinsTCC",
"hgvs_p": "p.Asn1110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377759.1",
"strand": false,
"transcript": "NM_001390830.1",
"transcript_support_level": null
},
{
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