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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: 17-2359409-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2359409&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SGSM2",
"hgnc_id": 29026,
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014853.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1051,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": null,
"cds_end": null,
"cds_length": 3156,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014853.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268989.8",
"protein_coding": true,
"protein_id": "NP_055668.2",
"strand": true,
"transcript": "NM_014853.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1051,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": null,
"cds_end": null,
"cds_length": 3156,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268989.8",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014853.3",
"protein_coding": true,
"protein_id": "ENSP00000268989.3",
"strand": true,
"transcript": "ENST00000268989.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1006,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4734,
"cdna_start": null,
"cds_end": null,
"cds_length": 3021,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426855.6",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415107.2",
"strand": true,
"transcript": "ENST00000426855.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": null,
"cds_end": null,
"cds_length": 3159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968832.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.272-2228C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638891.1",
"strand": true,
"transcript": "ENST00000968832.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1043,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 3132,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968833.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638892.1",
"strand": true,
"transcript": "ENST00000968833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1028,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": null,
"cds_end": null,
"cds_length": 3087,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930414.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600473.1",
"strand": true,
"transcript": "ENST00000930414.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1006,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": null,
"cds_end": null,
"cds_length": 3021,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098509.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091979.1",
"strand": true,
"transcript": "NM_001098509.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 987,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": null,
"cds_end": null,
"cds_length": 2964,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346700.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333629.1",
"strand": true,
"transcript": "NM_001346700.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 987,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": null,
"cds_end": null,
"cds_length": 2964,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574563.5",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459126.1",
"strand": true,
"transcript": "ENST00000574563.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": 902,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": null,
"cds_end": null,
"cds_length": 2709,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930413.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600472.1",
"strand": true,
"transcript": "ENST00000930413.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "XM_011524101.4",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.272-2228C>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522403.1",
"strand": true,
"transcript": "XM_011524101.4",
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},
{
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"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "XM_011524102.4",
"gene_hgnc_id": 29026,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522404.1",
"strand": true,
"transcript": "XM_011524102.4",
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},
{
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],
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"feature": "XM_011524103.4",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522405.1",
"strand": true,
"transcript": "XM_011524103.4",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "XM_011524104.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.224-2228C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522406.1",
"strand": true,
"transcript": "XM_011524104.3",
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},
{
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],
"exon_count": 25,
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"feature": "XM_011524105.4",
"gene_hgnc_id": 29026,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522407.1",
"strand": true,
"transcript": "XM_011524105.4",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_011524106.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522408.1",
"strand": true,
"transcript": "XM_011524106.2",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "XM_017025474.3",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.272-2228C>G",
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"mane_plus": null,
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"protein_id": "XP_016880963.1",
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"transcript": "XM_017025474.3",
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},
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],
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"feature": "XM_017025475.3",
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"strand": true,
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},
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],
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"feature": "XM_011524107.4",
"gene_hgnc_id": 29026,
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"hgvs_c": "c.272-2228C>G",
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"protein_id": "XP_011522409.1",
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},
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"consequences": [
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],
"exon_count": 24,
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"feature": "XM_047437209.1",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.272-2228C>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293165.1",
"strand": true,
"transcript": "XM_047437209.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 3039,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "XM_011524108.2",
"gene_hgnc_id": 29026,
"gene_symbol": "SGSM2",
"hgvs_c": "c.134-2228C>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522410.1",
"strand": true,
"transcript": "XM_011524108.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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