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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: 9-131860635-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131860635&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131860635,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004269.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Pro280Leu",
"transcript": "NM_004269.4",
"protein_id": "NP_004260.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 311,
"cds_start": 839,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292035.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004269.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Pro280Leu",
"transcript": "ENST00000292035.10",
"protein_id": "ENSP00000292035.5",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 311,
"cds_start": 839,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004269.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292035.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Pro244Leu",
"transcript": "ENST00000357028.6",
"protein_id": "ENSP00000349530.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 275,
"cds_start": 731,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357028.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"transcript": "ENST00000897372.1",
"protein_id": "ENSP00000567431.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 341,
"cds_start": 929,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897372.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Pro278Leu",
"transcript": "ENST00000897375.1",
"protein_id": "ENSP00000567434.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 309,
"cds_start": 833,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897375.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Pro266Leu",
"transcript": "ENST00000897374.1",
"protein_id": "ENSP00000567433.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 297,
"cds_start": 797,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897374.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Pro244Leu",
"transcript": "NM_001253881.2",
"protein_id": "NP_001240810.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 275,
"cds_start": 731,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253881.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Pro240Leu",
"transcript": "ENST00000951019.1",
"protein_id": "ENSP00000621078.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 271,
"cds_start": 719,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951019.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "ENST00000897373.1",
"protein_id": "ENSP00000567432.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897373.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Pro205Leu",
"transcript": "ENST00000897371.1",
"protein_id": "ENSP00000567430.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 236,
"cds_start": 614,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897371.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"transcript": "XM_017015329.2",
"protein_id": "XP_016870818.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 341,
"cds_start": 929,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"hgvs_c": "c.801+2428C>T",
"hgvs_p": null,
"transcript": "ENST00000651950.1",
"protein_id": "ENSP00000498604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651950.1"
}
],
"gene_symbol": "MED27",
"gene_hgnc_id": 2377,
"dbsnp": "rs778593272",
"frequency_reference_population": 0.000019222613,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000136942,
"gnomad_genomes_af": 0.0000722667,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1471768617630005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.3866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.536,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004269.4",
"gene_symbol": "MED27",
"hgnc_id": 2377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Pro280Leu"
}
],
"clinvar_disease": " and cerebellar hypoplasia, cataracts,Neurodevelopmental disorder with spasticity,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}