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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: 11-35432519-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35432519&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35432519,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015430.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"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.2000G>T",
"hgvs_p": "p.Gly667Val",
"transcript": "NM_001001991.3",
"protein_id": "NP_001001991.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 720,
"cds_start": 2000,
"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": "G",
"aa_alt": "V",
"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.2000G>T",
"hgvs_p": "p.Gly667Val",
"transcript": "ENST00000619888.5",
"protein_id": "ENSP00000483703.1",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 720,
"cds_start": 2000,
"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": "G",
"aa_alt": "V",
"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.2051G>T",
"hgvs_p": "p.Gly684Val",
"transcript": "ENST00000622144.4",
"protein_id": "ENSP00000482899.1",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 737,
"cds_start": 2051,
"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": "G",
"aa_alt": "V",
"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.2051G>T",
"hgvs_p": "p.Gly684Val",
"transcript": "NM_015430.4",
"protein_id": "NP_056245.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 737,
"cds_start": 2051,
"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": "G",
"aa_alt": "V",
"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.2021G>T",
"hgvs_p": "p.Gly674Val",
"transcript": "ENST00000953162.1",
"protein_id": "ENSP00000623221.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 727,
"cds_start": 2021,
"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": "G",
"aa_alt": "V",
"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.1880G>T",
"hgvs_p": "p.Gly627Val",
"transcript": "NM_001282675.2",
"protein_id": "NP_001269604.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 680,
"cds_start": 1880,
"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": "G",
"aa_alt": "V",
"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.1880G>T",
"hgvs_p": "p.Gly627Val",
"transcript": "ENST00000621476.4",
"protein_id": "ENSP00000480961.1",
"transcript_support_level": 2,
"aa_start": 627,
"aa_end": null,
"aa_length": 680,
"cds_start": 1880,
"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": "G",
"aa_alt": "V",
"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.1931G>T",
"hgvs_p": "p.Gly644Val",
"transcript": "ENST00000527605.5",
"protein_id": "ENSP00000432591.1",
"transcript_support_level": 5,
"aa_start": 644,
"aa_end": null,
"aa_length": 674,
"cds_start": 1931,
"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": "G",
"aa_alt": "V",
"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.1838G>T",
"hgvs_p": "p.Gly613Val",
"transcript": "ENST00000953164.1",
"protein_id": "ENSP00000623223.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1838,
"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": "G",
"aa_alt": "V",
"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.1835G>T",
"hgvs_p": "p.Gly612Val",
"transcript": "ENST00000953163.1",
"protein_id": "ENSP00000623222.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 665,
"cds_start": 1835,
"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": "G",
"aa_alt": "V",
"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.1787G>T",
"hgvs_p": "p.Gly596Val",
"transcript": "ENST00000903468.1",
"protein_id": "ENSP00000573527.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 649,
"cds_start": 1787,
"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": "G",
"aa_alt": "V",
"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.1745G>T",
"hgvs_p": "p.Gly582Val",
"transcript": "ENST00000903469.1",
"protein_id": "ENSP00000573528.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 635,
"cds_start": 1745,
"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": "G",
"aa_alt": "V",
"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.1667G>T",
"hgvs_p": "p.Gly556Val",
"transcript": "NM_001282676.2",
"protein_id": "NP_001269605.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 609,
"cds_start": 1667,
"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": "G",
"aa_alt": "V",
"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.1667G>T",
"hgvs_p": "p.Gly556Val",
"transcript": "ENST00000615849.4",
"protein_id": "ENSP00000479260.1",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 609,
"cds_start": 1667,
"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+13412C>A",
"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": "rs564715351",
"frequency_reference_population": 0.000008053205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": 0.0000590652,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9804552793502808,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.971,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.838,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015430.4",
"gene_symbol": "PAMR1",
"hgnc_id": 24554,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2051G>T",
"hgvs_p": "p.Gly684Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000844059.1",
"gene_symbol": "SLC1A2-AS2",
"hgnc_id": 40535,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146+13412C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}