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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-152867641-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=152867641&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NSDHL",
"hgnc_id": 13398,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_015922.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0923,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2715455889701843,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015922.3",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370274.8",
"protein_coding": true,
"protein_id": "NP_057006.1",
"strand": true,
"transcript": "NM_015922.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000370274.8",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015922.3",
"protein_coding": true,
"protein_id": "ENSP00000359297.3",
"strand": true,
"transcript": "ENST00000370274.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 385,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1158,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915682.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.793C>A",
"hgvs_p": "p.Gln265Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585741.1",
"strand": true,
"transcript": "ENST00000915682.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001129765.2",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123237.1",
"strand": true,
"transcript": "NM_001129765.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001441099.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428028.1",
"strand": true,
"transcript": "NM_001441099.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440023.5",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391854.1",
"strand": true,
"transcript": "ENST00000440023.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881877.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551936.1",
"strand": true,
"transcript": "ENST00000881877.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881880.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551939.1",
"strand": true,
"transcript": "ENST00000881880.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881881.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551940.1",
"strand": true,
"transcript": "ENST00000881881.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881882.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551941.1",
"strand": true,
"transcript": "ENST00000881882.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881883.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551942.1",
"strand": true,
"transcript": "ENST00000881883.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881884.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551943.1",
"strand": true,
"transcript": "ENST00000881884.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881885.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551944.1",
"strand": true,
"transcript": "ENST00000881885.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881886.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551945.1",
"strand": true,
"transcript": "ENST00000881886.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915680.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585739.1",
"strand": true,
"transcript": "ENST00000915680.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915681.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585740.1",
"strand": true,
"transcript": "ENST00000915681.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915684.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585743.1",
"strand": true,
"transcript": "ENST00000915684.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969426.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639485.1",
"strand": true,
"transcript": "ENST00000969426.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000969428.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639487.1",
"strand": true,
"transcript": "ENST00000969428.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969429.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639488.1",
"strand": true,
"transcript": "ENST00000969429.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 373,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1122,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969430.1",
"gene_hgnc_id": 13398,
"gene_symbol": "NSDHL",
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
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