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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: 11-75566896-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75566896&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINH1",
"hgnc_id": 1546,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001235.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.2332,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9162547588348389,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001235.5",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358171.8",
"protein_coding": true,
"protein_id": "NP_001226.2",
"strand": true,
"transcript": "NM_001235.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358171.8",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001235.5",
"protein_coding": true,
"protein_id": "ENSP00000350894.4",
"strand": true,
"transcript": "ENST00000358171.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 324,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 692,
"cds_end": null,
"cds_length": 975,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530284.5",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436305.1",
"strand": true,
"transcript": "ENST00000530284.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001207014.3",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193943.1",
"strand": true,
"transcript": "NM_001207014.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440311.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427240.1",
"strand": true,
"transcript": "NM_001440311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440312.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427241.1",
"strand": true,
"transcript": "NM_001440312.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440313.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427242.1",
"strand": true,
"transcript": "NM_001440313.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440314.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427243.1",
"strand": true,
"transcript": "NM_001440314.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440315.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427244.1",
"strand": true,
"transcript": "NM_001440315.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440316.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427245.1",
"strand": true,
"transcript": "NM_001440316.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3391,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000524558.5",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434412.1",
"strand": true,
"transcript": "ENST00000524558.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533603.5",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434657.1",
"strand": true,
"transcript": "ENST00000533603.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872810.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542869.1",
"strand": true,
"transcript": "ENST00000872810.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2078,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872811.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542870.1",
"strand": true,
"transcript": "ENST00000872811.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872812.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542871.1",
"strand": true,
"transcript": "ENST00000872812.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5032,
"cdna_start": 3624,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872813.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542872.1",
"strand": true,
"transcript": "ENST00000872813.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922053.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592112.1",
"strand": true,
"transcript": "ENST00000922053.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922054.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592113.1",
"strand": true,
"transcript": "ENST00000922054.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922055.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592114.1",
"strand": true,
"transcript": "ENST00000922055.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922056.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592115.1",
"strand": true,
"transcript": "ENST00000922056.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1257,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922057.1",
"gene_hgnc_id": 1546,
"gene_symbol": "SERPINH1",
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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