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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: 1-108885572-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108885572&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_013296.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"hgvs_c": "c.1-35996C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000357393.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"hgvs_c": "c.*46-3324C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000690509.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.1772,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2587566673755646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 542,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_013296.5",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 542,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000264126.9",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "I",
"aa_end": null,
"aa_length": 701,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2106,
"cds_start": 7,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000674914.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"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": "I",
"aa_end": null,
"aa_length": 701,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 286,
"cds_end": null,
"cds_length": 2106,
"cds_start": 7,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675087.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321038.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 542,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321039.3",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000406462.6",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 752,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000446797.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 546,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642355.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645164.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 299,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676184.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 599,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000876528.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 713,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000876530.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
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"aa_length": 684,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 994,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876531.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000876532.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 2885,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000876533.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"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": "H",
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"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": 785,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942318.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612377.1",
"strand": true,
"transcript": "ENST00000942318.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 940,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942319.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612378.1",
"strand": true,
"transcript": "ENST00000942319.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 833,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942320.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612379.1",
"strand": true,
"transcript": "ENST00000942320.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 2055,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942321.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}