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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: 4-127921963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127921963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "MFSD8",
"hgnc_id": 28486,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001371591.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "4",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Neuronal ceroid lipofuscinosis 7,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.23000000417232513,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 518,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1557,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001371596.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000641686.2",
"protein_coding": true,
"protein_id": "NP_001358525.1",
"strand": false,
"transcript": "NM_001371596.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 518,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1557,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000641686.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001371596.2",
"protein_coding": true,
"protein_id": "ENSP00000493218.2",
"strand": false,
"transcript": "ENST00000641686.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 518,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1557,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000296468.8",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296468.3",
"strand": false,
"transcript": "ENST00000296468.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1566,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001371591.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358520.1",
"strand": false,
"transcript": "NM_001371591.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 520,
"aa_ref": "K",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1005,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001371592.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Lys335Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358521.1",
"strand": false,
"transcript": "NM_001371592.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 518,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1557,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_152778.4",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689991.1",
"strand": false,
"transcript": "NM_152778.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 514,
"aa_ref": "K",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4384,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1545,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945724.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Lys329Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615783.1",
"strand": false,
"transcript": "ENST00000945724.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1443,
"cds_start": 885,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001371593.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358522.1",
"strand": false,
"transcript": "NM_001371593.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1443,
"cds_start": 885,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000641186.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493347.1",
"strand": false,
"transcript": "ENST00000641186.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 473,
"aa_ref": "K",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1422,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001371590.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Lys288Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358519.1",
"strand": false,
"transcript": "NM_001371590.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 473,
"aa_ref": "K",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1422,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000641178.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Lys288Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492989.1",
"strand": false,
"transcript": "ENST00000641178.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 469,
"aa_ref": "K",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1410,
"cds_start": 852,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001371594.2",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Lys284Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358523.1",
"strand": false,
"transcript": "NM_001371594.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1368,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642042.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493260.1",
"strand": false,
"transcript": "ENST00000642042.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1356,
"cds_start": 798,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363520.3",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Lys266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350449.1",
"strand": false,
"transcript": "NM_001363520.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1356,
"cds_start": 798,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000641690.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Lys266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492966.1",
"strand": false,
"transcript": "ENST00000641690.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 424,
"aa_ref": "K",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1275,
"cds_start": 717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001371595.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Lys239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358524.1",
"strand": false,
"transcript": "NM_001371595.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 424,
"aa_ref": "K",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1275,
"cds_start": 717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000513559.6",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Lys239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425000.2",
"strand": false,
"transcript": "ENST00000513559.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "K",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4107,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1242,
"cds_start": 684,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001363521.3",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Lys228Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350450.1",
"strand": false,
"transcript": "NM_001363521.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "K",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1242,
"cds_start": 684,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000641509.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Lys228Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493459.1",
"strand": false,
"transcript": "ENST00000641509.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 368,
"aa_ref": "K",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1107,
"cds_start": 549,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001410765.1",
"gene_hgnc_id": 28486,
"gene_symbol": "MFSD8",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Lys183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397694.1",
"strand": false,
"transcript": "NM_001410765.1",
"transcript_support_level": null
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