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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: 19-45815685-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45815685&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYMPK",
"hgnc_id": 22935,
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004819.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0767,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03852608799934387,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_004819.3",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245934.12",
"protein_coding": true,
"protein_id": "NP_004810.2",
"strand": false,
"transcript": "NM_004819.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 3802,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000245934.12",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004819.3",
"protein_coding": true,
"protein_id": "ENSP00000245934.7",
"strand": false,
"transcript": "ENST00000245934.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "G",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 3872,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876458.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3763G>A",
"hgvs_p": "p.Gly1255Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546517.1",
"strand": false,
"transcript": "ENST00000876458.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "G",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3876,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3760,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876454.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Gly1254Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546513.1",
"strand": false,
"transcript": "ENST00000876454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "G",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 3883,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3727,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876449.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3727G>A",
"hgvs_p": "p.Gly1243Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546508.1",
"strand": false,
"transcript": "ENST00000876449.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "G",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 3819,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3727,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876463.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3727G>A",
"hgvs_p": "p.Gly1243Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546522.1",
"strand": false,
"transcript": "ENST00000876463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000715464.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520453.1",
"strand": false,
"transcript": "ENST00000715464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876448.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546507.1",
"strand": false,
"transcript": "ENST00000876448.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 3804,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876457.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546516.1",
"strand": false,
"transcript": "ENST00000876457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 3798,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876459.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546518.1",
"strand": false,
"transcript": "ENST00000876459.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4162,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000876461.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3700G>A",
"hgvs_p": "p.Gly1234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546520.1",
"strand": false,
"transcript": "ENST00000876461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "G",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 3824,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876450.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3697G>A",
"hgvs_p": "p.Gly1233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546509.1",
"strand": false,
"transcript": "ENST00000876450.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "G",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 3792,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876460.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3697G>A",
"hgvs_p": "p.Gly1233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546519.1",
"strand": false,
"transcript": "ENST00000876460.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "G",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 3793,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3694,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876465.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3694G>A",
"hgvs_p": "p.Gly1232Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546524.1",
"strand": false,
"transcript": "ENST00000876465.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "G",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 3763,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3661,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876466.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Gly1221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546525.1",
"strand": false,
"transcript": "ENST00000876466.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "G",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 3757,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000876453.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3637G>A",
"hgvs_p": "p.Gly1213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546512.1",
"strand": false,
"transcript": "ENST00000876453.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "G",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3541,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000876455.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3541G>A",
"hgvs_p": "p.Gly1181Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546514.1",
"strand": false,
"transcript": "ENST00000876455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "G",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 3625,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3523,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000876464.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3523G>A",
"hgvs_p": "p.Gly1175Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546523.1",
"strand": false,
"transcript": "ENST00000876464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "G",
"aa_start": 1156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": 3565,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3466,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916416.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3466G>A",
"hgvs_p": "p.Gly1156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586475.1",
"strand": false,
"transcript": "ENST00000916416.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "G",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 3572,
"cds_end": null,
"cds_length": 3585,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000876451.1",
"gene_hgnc_id": 22935,
"gene_symbol": "SYMPK",
"hgvs_c": "c.3460G>A",
"hgvs_p": "p.Gly1154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546510.1",
"strand": false,
"transcript": "ENST00000876451.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "G",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 3574,
"cds_end": null,
"cds_length": 3585,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
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