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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: 1-108929705-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108929705&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_013296.5",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"hgvs_c": "c.*2842G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_001048210.3",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"hgvs_c": "c.-1+33656G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "ENST00000357393.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 2201,
"alphamissense_prediction": null,
"alphamissense_score": 0.3644,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.018236428499221802,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_013296.5",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264126.9",
"protein_coding": true,
"protein_id": "NP_037428.3",
"strand": true,
"transcript": "NM_013296.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000264126.9",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013296.5",
"protein_coding": true,
"protein_id": "ENSP00000264126.3",
"strand": true,
"transcript": "ENST00000264126.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001377458.1",
"gene_hgnc_id": 29675,
"gene_symbol": "CLCC1",
"hgvs_c": "c.*2842G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369969.7",
"protein_coding": true,
"protein_id": "NP_001364387.1",
"strand": false,
"transcript": "NM_001377458.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000369969.7",
"gene_hgnc_id": 29675,
"gene_symbol": "CLCC1",
"hgvs_c": "c.*2842G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001377458.1",
"protein_coding": true,
"protein_id": "ENSP00000358986.3",
"strand": false,
"transcript": "ENST00000369969.7",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 701,
"aa_ref": "S",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674914.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Ser624Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501579.1",
"strand": true,
"transcript": "ENST00000674914.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 701,
"aa_ref": "S",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675087.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Ser624Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502020.1",
"strand": true,
"transcript": "ENST00000675087.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321038.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307967.1",
"strand": true,
"transcript": "NM_001321038.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321039.3",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307968.1",
"strand": true,
"transcript": "NM_001321039.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000406462.6",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385510.1",
"strand": true,
"transcript": "ENST00000406462.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000446797.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392138.2",
"strand": true,
"transcript": "ENST00000446797.2",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000642355.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496104.1",
"strand": true,
"transcript": "ENST00000642355.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000645164.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496756.2",
"strand": true,
"transcript": "ENST00000645164.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676184.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502178.1",
"strand": true,
"transcript": "ENST00000676184.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876528.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546587.1",
"strand": true,
"transcript": "ENST00000876528.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876530.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546589.1",
"strand": true,
"transcript": "ENST00000876530.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000876531.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546590.1",
"strand": true,
"transcript": "ENST00000876531.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876532.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546591.1",
"strand": true,
"transcript": "ENST00000876532.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 4655,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876533.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546592.1",
"strand": true,
"transcript": "ENST00000876533.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942318.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612377.1",
"strand": true,
"transcript": "ENST00000942318.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2710,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 16,
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