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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: 9-137449500-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137449500&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NSMF",
"hgnc_id": 29843,
"hgvs_c": "c.1496-9T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001130969.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 2302,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7099999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 530,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": null,
"cds_end": null,
"cds_length": 1593,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130969.3",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1496-9T>C",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371475.9",
"protein_coding": true,
"protein_id": "NP_001124441.1",
"strand": false,
"transcript": "NM_001130969.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 530,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": null,
"cds_end": null,
"cds_length": 1593,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371475.9",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1496-9T>C",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130969.3",
"protein_coding": true,
"protein_id": "ENSP00000360530.3",
"strand": false,
"transcript": "ENST00000371475.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 528,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": 1587,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265663.12",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1490-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265663.7",
"strand": false,
"transcript": "ENST00000265663.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 528,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": null,
"cds_end": null,
"cds_length": 1587,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371472.6",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1490-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360527.1",
"strand": false,
"transcript": "ENST00000371472.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371474.7",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1421-9T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360529.3",
"strand": false,
"transcript": "ENST00000371474.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 500,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371473.7",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1406-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360528.3",
"strand": false,
"transcript": "ENST00000371473.7",
"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": 2888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371482.5",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "n.1622-9T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000371482.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934994.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1715-9T>C",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605053.1",
"strand": false,
"transcript": "ENST00000934994.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 590,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935000.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1676-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605059.1",
"strand": false,
"transcript": "ENST00000935000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 580,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934996.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1646-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605055.1",
"strand": false,
"transcript": "ENST00000934996.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1629,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961356.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1532-9T>C",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631415.1",
"strand": false,
"transcript": "ENST00000961356.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000861168.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1514-9T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531227.1",
"strand": false,
"transcript": "ENST00000861168.1",
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},
{
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],
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"feature": "NM_015537.5",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1490-9T>C",
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"protein_coding": true,
"protein_id": "NP_056352.3",
"strand": false,
"transcript": "NM_015537.5",
"transcript_support_level": null
},
{
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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": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000934993.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1490-9T>C",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605052.1",
"strand": false,
"transcript": "ENST00000934993.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000934998.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1481-9T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605057.1",
"strand": false,
"transcript": "ENST00000934998.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000961354.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1481-9T>C",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631413.1",
"strand": false,
"transcript": "ENST00000961354.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961355.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1481-9T>C",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631414.1",
"strand": false,
"transcript": "ENST00000961355.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000934995.1",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1475-9T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605054.1",
"strand": false,
"transcript": "ENST00000934995.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001130970.2",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1427-9T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124442.1",
"strand": false,
"transcript": "NM_001130970.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437259.5",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1427-9T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412007.1",
"strand": false,
"transcript": "ENST00000437259.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130971.2",
"gene_hgnc_id": 29843,
"gene_symbol": "NSMF",
"hgvs_c": "c.1421-9T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124443.1",
"strand": false,
"transcript": "NM_001130971.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
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