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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: 18-7630984-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=7630984&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 7630984,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000580170.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "NM_001105244.2",
"protein_id": "NP_001098714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": -4,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": "ENST00000580170.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "ENST00000580170.6",
"protein_id": "ENSP00000463325.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": -4,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": "NM_001105244.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "ENST00000332175.12",
"protein_id": "ENSP00000331418.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": -4,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "NM_002845.4",
"protein_id": "NP_002836.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": -4,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_011525708.3",
"protein_id": "XP_011524010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1507,
"cds_start": -4,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_011525712.3",
"protein_id": "XP_011524014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1482,
"cds_start": -4,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437714.1",
"protein_id": "XP_047293670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1478,
"cds_start": -4,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437715.1",
"protein_id": "XP_047293671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": -4,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437716.1",
"protein_id": "XP_047293672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437717.1",
"protein_id": "XP_047293673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": -4,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_017025911.2",
"protein_id": "XP_016881400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437723.1",
"protein_id": "XP_047293679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": -4,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.73+63093A>G",
"hgvs_p": null,
"transcript": "XM_047437724.1",
"protein_id": "XP_047293680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"dbsnp": "rs1941141",
"frequency_reference_population": 0.4085786,
"hom_count_reference_population": 19645,
"allele_count_reference_population": 62135,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.408579,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 62135,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 19645,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.777,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000580170.6",
"gene_symbol": "PTPRM",
"hgnc_id": 9675,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.73+63093A>G",
"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
}