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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: 9-34635841-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34635841&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SIGMAR1",
"hgnc_id": 8157,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 1,
"transcript": "NM_005866.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate,BP6",
"acmg_score": 1,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.1355,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Amyotrophic lateral sclerosis type 16,Autosomal recessive distal spinal muscular atrophy 2,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09203293919563293,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 223,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 553,
"cds_end": null,
"cds_length": 672,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005866.4",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000277010.9",
"protein_coding": true,
"protein_id": "NP_005857.1",
"strand": false,
"transcript": "NM_005866.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 223,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 553,
"cds_end": null,
"cds_length": 672,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000277010.9",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005866.4",
"protein_coding": true,
"protein_id": "ENSP00000277010.4",
"strand": false,
"transcript": "ENST00000277010.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 840,
"cdna_start": 482,
"cds_end": null,
"cds_length": 579,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000477726.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Gly124Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420022.1",
"strand": false,
"transcript": "ENST00000477726.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000353468.4",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "n.*95G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434453.1",
"strand": false,
"transcript": "ENST00000353468.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000461426.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461426.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000353468.4",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "n.*95G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434453.1",
"strand": false,
"transcript": "ENST00000353468.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 217,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 564,
"cds_end": null,
"cds_length": 654,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902807.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572866.1",
"strand": false,
"transcript": "ENST00000902807.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "G",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 572,
"cds_end": null,
"cds_length": 648,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902806.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Gly147Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572865.1",
"strand": false,
"transcript": "ENST00000902806.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 493,
"cds_end": null,
"cds_length": 612,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282207.2",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269136.1",
"strand": false,
"transcript": "NM_001282207.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 493,
"cds_end": null,
"cds_length": 612,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679597.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505634.1",
"strand": false,
"transcript": "ENST00000679597.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 444,
"cds_end": null,
"cds_length": 582,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934986.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605045.1",
"strand": false,
"transcript": "ENST00000934986.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 460,
"cds_end": null,
"cds_length": 579,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_147157.3",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Gly124Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671513.1",
"strand": false,
"transcript": "NM_147157.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 172,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 400,
"cds_end": null,
"cds_length": 519,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902808.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Gly104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572867.1",
"strand": false,
"transcript": "ENST00000902808.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 156,
"aa_ref": "G",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 350,
"cds_end": null,
"cds_length": 471,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902810.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Gly88Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572869.1",
"strand": false,
"transcript": "ENST00000902810.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 305,
"cds_end": null,
"cds_length": 411,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966016.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636075.1",
"strand": false,
"transcript": "ENST00000966016.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 134,
"aa_ref": "G",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 624,
"cds_end": null,
"cds_length": 405,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378892.5",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Gly66Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368170.1",
"strand": false,
"transcript": "ENST00000378892.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 123,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 506,
"cds_end": null,
"cds_length": 372,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282206.2",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269135.1",
"strand": false,
"transcript": "NM_001282206.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 110,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 413,
"cds_end": null,
"cds_length": 333,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282209.2",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269138.1",
"strand": false,
"transcript": "NM_001282209.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 110,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 435,
"cds_end": null,
"cds_length": 333,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680730.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505588.1",
"strand": false,
"transcript": "ENST00000680730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 159,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": null,
"cds_end": null,
"cds_length": 480,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282208.2",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.*6G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269137.1",
"strand": false,
"transcript": "NM_001282208.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 159,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": null,
"cds_end": null,
"cds_length": 480,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680277.1",
"gene_hgnc_id": 8157,
"gene_symbol": "SIGMAR1",
"hgvs_c": "c.*6G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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