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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: 7-6023371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6023371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AIMP2",
"hgnc_id": 20609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_006303.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "EIF2AK1",
"hgnc_id": 24921,
"hgvs_c": "c.*1302G>A",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014413.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.6916,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9303183555603027,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 735,
"cds_end": null,
"cds_length": 963,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006303.4",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223029.8",
"protein_coding": true,
"protein_id": "NP_006294.2",
"strand": true,
"transcript": "NM_006303.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 735,
"cds_end": null,
"cds_length": 963,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000223029.8",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006303.4",
"protein_coding": true,
"protein_id": "ENSP00000223029.3",
"strand": true,
"transcript": "ENST00000223029.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_014413.4",
"gene_hgnc_id": 24921,
"gene_symbol": "EIF2AK1",
"hgvs_c": "c.*1302G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000199389.11",
"protein_coding": true,
"protein_id": "NP_055228.2",
"strand": false,
"transcript": "NM_014413.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000199389.11",
"gene_hgnc_id": 24921,
"gene_symbol": "EIF2AK1",
"hgvs_c": "c.*1302G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014413.4",
"protein_coding": true,
"protein_id": "ENSP00000199389.6",
"strand": false,
"transcript": "ENST00000199389.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 793,
"cds_end": null,
"cds_length": 876,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001362785.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349714.1",
"strand": true,
"transcript": "NM_001362785.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 280,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 615,
"cds_end": null,
"cds_length": 843,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001326606.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313535.1",
"strand": true,
"transcript": "NM_001326606.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 713,
"cds_end": null,
"cds_length": 831,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001362787.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349716.1",
"strand": true,
"transcript": "NM_001362787.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 528,
"cds_end": null,
"cds_length": 756,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001326607.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313536.1",
"strand": true,
"transcript": "NM_001326607.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 860,
"cdna_start": 484,
"cds_end": null,
"cds_length": 756,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395236.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378658.2",
"strand": true,
"transcript": "ENST00000395236.2",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 821,
"cds_end": null,
"cds_length": 729,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001326609.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313538.1",
"strand": true,
"transcript": "NM_001326609.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 766,
"cds_end": null,
"cds_length": 729,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001326610.2",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313539.1",
"strand": true,
"transcript": "NM_001326610.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 753,
"cds_end": null,
"cds_length": 729,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001326611.3",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313540.1",
"strand": true,
"transcript": "NM_001326611.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 783,
"cds_end": null,
"cds_length": 729,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400479.6",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383327.2",
"strand": true,
"transcript": "ENST00000400479.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 870,
"cdna_start": 408,
"cds_end": null,
"cds_length": 636,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858691.1",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528750.1",
"strand": true,
"transcript": "ENST00000858691.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2471,
"cds_end": null,
"cds_length": 942,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005249847.4",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005249904.1",
"strand": true,
"transcript": "XM_005249847.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 644,
"cds_end": null,
"cds_length": 876,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420834.1",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276790.1",
"strand": true,
"transcript": "XM_047420834.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 695,
"cds_end": null,
"cds_length": 876,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420835.1",
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276791.1",
"strand": true,
"transcript": "XM_047420835.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 629,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001134335.2",
"gene_hgnc_id": 24921,
"gene_symbol": "EIF2AK1",
"hgvs_c": "c.*1302G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001127807.1",
"strand": false,
"transcript": "NM_001134335.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 71,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": 216,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000422786.1",
"gene_hgnc_id": 24921,
"gene_symbol": "EIF2AK1",
"hgvs_c": "c.*370G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392734.1",
"strand": false,
"transcript": "ENST00000422786.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047420200.1",
"gene_hgnc_id": 24921,
"gene_symbol": "EIF2AK1",
"hgvs_c": "c.*1302G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276156.1",
"strand": false,
"transcript": "XM_047420200.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377482895",
"effect": "missense_variant",
"frequency_reference_population": 0.00001549033,
"gene_hgnc_id": 20609,
"gene_symbol": "AIMP2",
"gnomad_exomes_ac": 21,
"gnomad_exomes_af": 0.0000143667,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262819,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.318,
"pos": 6023371,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.704,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006303.4"
}
]
}