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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: 11-35432726-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35432726&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35432726,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015430.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Val598Ala",
"transcript": "NM_001001991.3",
"protein_id": "NP_001001991.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 720,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619888.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001991.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Val598Ala",
"transcript": "ENST00000619888.5",
"protein_id": "ENSP00000483703.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 720,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001991.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619888.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Val615Ala",
"transcript": "ENST00000622144.4",
"protein_id": "ENSP00000482899.1",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 737,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622144.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Val615Ala",
"transcript": "NM_015430.4",
"protein_id": "NP_056245.2",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 737,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015430.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1814T>C",
"hgvs_p": "p.Val605Ala",
"transcript": "ENST00000953162.1",
"protein_id": "ENSP00000623221.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 727,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953162.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1673T>C",
"hgvs_p": "p.Val558Ala",
"transcript": "NM_001282675.2",
"protein_id": "NP_001269604.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 680,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282675.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1673T>C",
"hgvs_p": "p.Val558Ala",
"transcript": "ENST00000621476.4",
"protein_id": "ENSP00000480961.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 680,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621476.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1724T>C",
"hgvs_p": "p.Val575Ala",
"transcript": "ENST00000527605.5",
"protein_id": "ENSP00000432591.1",
"transcript_support_level": 5,
"aa_start": 575,
"aa_end": null,
"aa_length": 674,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527605.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1631T>C",
"hgvs_p": "p.Val544Ala",
"transcript": "ENST00000953164.1",
"protein_id": "ENSP00000623223.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 666,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953164.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1628T>C",
"hgvs_p": "p.Val543Ala",
"transcript": "ENST00000953163.1",
"protein_id": "ENSP00000623222.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 665,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953163.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1580T>C",
"hgvs_p": "p.Val527Ala",
"transcript": "ENST00000903468.1",
"protein_id": "ENSP00000573527.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 649,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903468.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Val513Ala",
"transcript": "ENST00000903469.1",
"protein_id": "ENSP00000573528.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 635,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903469.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Val487Ala",
"transcript": "NM_001282676.2",
"protein_id": "NP_001269605.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 609,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282676.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Val487Ala",
"transcript": "ENST00000615849.4",
"protein_id": "ENSP00000479260.1",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 609,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615849.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC1A2-AS2",
"gene_hgnc_id": 40535,
"hgvs_c": "n.146+13619A>G",
"hgvs_p": null,
"transcript": "ENST00000844059.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000844059.1"
}
],
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"dbsnp": "rs1166326385",
"frequency_reference_population": 0.000006815315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.000006841,
"gnomad_genomes_af": 0.00000656866,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8895518779754639,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.832,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.916,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015430.4",
"gene_symbol": "PAMR1",
"hgnc_id": 24554,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Val615Ala"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000844059.1",
"gene_symbol": "SLC1A2-AS2",
"hgnc_id": 40535,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146+13619A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}