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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: 20-6107570-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=6107570&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 6107570,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_017671.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "NM_017671.5",
"protein_id": "NP_060141.3",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217289.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017671.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000217289.9",
"protein_id": "ENSP00000217289.4",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017671.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217289.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.*313C>T",
"hgvs_p": null,
"transcript": "ENST00000536936.1",
"protein_id": "ENSP00000441063.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000536936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.*313C>T",
"hgvs_p": null,
"transcript": "ENST00000536936.1",
"protein_id": "ENSP00000441063.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000536936.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000699095.1",
"protein_id": "ENSP00000514127.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699095.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000855451.1",
"protein_id": "ENSP00000525510.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855451.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000855452.1",
"protein_id": "ENSP00000525511.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855452.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000936598.1",
"protein_id": "ENSP00000606657.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936598.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000936599.1",
"protein_id": "ENSP00000606658.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936599.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000936600.1",
"protein_id": "ENSP00000606659.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936600.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000855453.1",
"protein_id": "ENSP00000525512.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 676,
"cds_start": 811,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855453.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "ENST00000699098.1",
"protein_id": "ENSP00000514312.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 296,
"cds_start": 811,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699098.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "XM_024451935.2",
"protein_id": "XP_024307703.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451935.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*",
"transcript": "XM_047440259.1",
"protein_id": "XP_047296215.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 677,
"cds_start": 811,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440259.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176*",
"transcript": "XM_047440260.1",
"protein_id": "XP_047296216.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 582,
"cds_start": 526,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.1273C>T",
"hgvs_p": null,
"transcript": "ENST00000699096.1",
"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": "retained_intron",
"feature": "ENST00000699096.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.-20C>T",
"hgvs_p": null,
"transcript": "ENST00000699097.1",
"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": "retained_intron",
"feature": "ENST00000699097.1"
}
],
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"dbsnp": "rs121918293",
"frequency_reference_population": 0.000019225856,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000150659,
"gnomad_genomes_af": 0.000059149,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.398,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_017671.5",
"gene_symbol": "FERMT1",
"hgnc_id": 15889,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271*"
}
],
"clinvar_disease": "FERMT1-related disorder,Kindler syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Kindler syndrome|not provided|FERMT1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}