← Back to variant description
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: 7-6023380-TTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6023380&ref=TTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6023380,
"ref": "TTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_006303.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.658_659delCT",
"hgvs_p": "p.Leu220fs",
"transcript": "NM_006303.4",
"protein_id": "NP_006294.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 320,
"cds_start": 658,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223029.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006303.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.658_659delCT",
"hgvs_p": "p.Leu220fs",
"transcript": "ENST00000223029.8",
"protein_id": "ENSP00000223029.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 320,
"cds_start": 658,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006303.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223029.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1291_*1292delGA",
"hgvs_p": null,
"transcript": "NM_014413.4",
"protein_id": "NP_055228.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000199389.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014413.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1291_*1292delGA",
"hgvs_p": null,
"transcript": "ENST00000199389.11",
"protein_id": "ENSP00000199389.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014413.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000199389.11"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.571_572delCT",
"hgvs_p": "p.Leu191fs",
"transcript": "NM_001362785.2",
"protein_id": "NP_001349714.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 291,
"cds_start": 571,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362785.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.538_539delCT",
"hgvs_p": "p.Leu180fs",
"transcript": "NM_001326606.2",
"protein_id": "NP_001313535.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 280,
"cds_start": 538,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326606.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.526_527delCT",
"hgvs_p": "p.Leu176fs",
"transcript": "NM_001362787.2",
"protein_id": "NP_001349716.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 276,
"cds_start": 526,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362787.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.451_452delCT",
"hgvs_p": "p.Leu151fs",
"transcript": "NM_001326607.2",
"protein_id": "NP_001313536.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 251,
"cds_start": 451,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326607.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.451_452delCT",
"hgvs_p": "p.Leu151fs",
"transcript": "ENST00000395236.2",
"protein_id": "ENSP00000378658.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 251,
"cds_start": 451,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395236.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.424_425delCT",
"hgvs_p": "p.Leu142fs",
"transcript": "NM_001326609.2",
"protein_id": "NP_001313538.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 242,
"cds_start": 424,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326609.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.424_425delCT",
"hgvs_p": "p.Leu142fs",
"transcript": "NM_001326610.2",
"protein_id": "NP_001313539.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 242,
"cds_start": 424,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326610.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.424_425delCT",
"hgvs_p": "p.Leu142fs",
"transcript": "NM_001326611.3",
"protein_id": "NP_001313540.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 242,
"cds_start": 424,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326611.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.424_425delCT",
"hgvs_p": "p.Leu142fs",
"transcript": "ENST00000400479.6",
"protein_id": "ENSP00000383327.2",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 242,
"cds_start": 424,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400479.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.331_332delCT",
"hgvs_p": "p.Leu111fs",
"transcript": "ENST00000858691.1",
"protein_id": "ENSP00000528750.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 211,
"cds_start": 331,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858691.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.637_638delCT",
"hgvs_p": "p.Leu213fs",
"transcript": "XM_005249847.4",
"protein_id": "XP_005249904.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 313,
"cds_start": 637,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249847.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.571_572delCT",
"hgvs_p": "p.Leu191fs",
"transcript": "XM_047420834.1",
"protein_id": "XP_047276790.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 291,
"cds_start": 571,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420834.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.571_572delCT",
"hgvs_p": "p.Leu191fs",
"transcript": "XM_047420835.1",
"protein_id": "XP_047276791.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 291,
"cds_start": 571,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1291_*1292delGA",
"hgvs_p": null,
"transcript": "NM_001134335.2",
"protein_id": "NP_001127807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*359_*360delGA",
"hgvs_p": null,
"transcript": "ENST00000422786.1",
"protein_id": "ENSP00000392734.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1291_*1292delGA",
"hgvs_p": null,
"transcript": "XM_047420200.1",
"protein_id": "XP_047276156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420200.1"
}
],
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"dbsnp": "rs760123492",
"frequency_reference_population": 0.000002736285,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273629,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.575,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006303.4",
"gene_symbol": "AIMP2",
"hgnc_id": 20609,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.658_659delCT",
"hgvs_p": "p.Leu220fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014413.4",
"gene_symbol": "EIF2AK1",
"hgnc_id": 24921,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.*1291_*1292delGA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}