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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: 1-40417423-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40417423&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SMAP2",
"hgnc_id": 25082,
"hgvs_c": "c.1164+327C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_022733.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 14629,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022733.3",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1164+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372718.8",
"protein_coding": true,
"protein_id": "NP_073570.1",
"strand": true,
"transcript": "NM_022733.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372718.8",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1164+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022733.3",
"protein_coding": true,
"protein_id": "ENSP00000361803.3",
"strand": true,
"transcript": "ENST00000372718.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614549.4",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1149+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479285.1",
"strand": true,
"transcript": "ENST00000614549.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372708.5",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1074+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361793.1",
"strand": true,
"transcript": "ENST00000372708.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198979.2",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1149+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185908.1",
"strand": true,
"transcript": "NM_001198979.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 405,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": null,
"cds_end": null,
"cds_length": 1218,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851553.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1092+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521613.1",
"strand": true,
"transcript": "ENST00000851553.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198978.2",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1074+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185907.1",
"strand": true,
"transcript": "NM_001198978.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913386.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.972+327C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583445.1",
"strand": true,
"transcript": "ENST00000913386.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198980.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.924+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185909.1",
"strand": true,
"transcript": "NM_001198980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539317.2",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.924+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442835.1",
"strand": true,
"transcript": "ENST00000539317.2",
"transcript_support_level": 2
},
{
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"aa_length": 273,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851555.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.696+327C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521614.1",
"strand": true,
"transcript": "ENST00000851555.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000913385.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000583444.1",
"strand": true,
"transcript": "ENST00000913385.1",
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},
{
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"canonical": false,
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"consequences": [
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],
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"feature": "XM_047428009.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283965.1",
"strand": true,
"transcript": "XM_047428009.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_011541960.3",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1086+327C>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011540262.1",
"strand": true,
"transcript": "XM_011541960.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "XM_047428010.1",
"gene_hgnc_id": 25082,
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"hgvs_c": "c.1086+327C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283966.1",
"strand": true,
"transcript": "XM_047428010.1",
"transcript_support_level": null
},
{
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"cds_end": null,
"cds_length": 1212,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047428011.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1086+327C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283967.1",
"strand": true,
"transcript": "XM_047428011.1",
"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": 11,
"exon_rank": null,
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"feature": "XM_047428012.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.1086+327C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283968.1",
"strand": true,
"transcript": "XM_047428012.1",
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},
{
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"consequences": [
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],
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"feature": "XM_047428013.1",
"gene_hgnc_id": 25082,
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"hgvs_c": "c.1086+327C>T",
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"protein_id": "XP_047283969.1",
"strand": true,
"transcript": "XM_047428013.1",
"transcript_support_level": null
},
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"cds_start": null,
"consequences": [
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],
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"feature": "XM_047428014.1",
"gene_hgnc_id": 25082,
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"hgvs_c": "c.1086+327C>T",
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"protein_coding": true,
"protein_id": "XP_047283970.1",
"strand": true,
"transcript": "XM_047428014.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047428015.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.924+327C>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283971.1",
"strand": true,
"transcript": "XM_047428015.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047428016.1",
"gene_hgnc_id": 25082,
"gene_symbol": "SMAP2",
"hgvs_c": "c.924+327C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283972.1",
"strand": true,
"transcript": "XM_047428016.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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