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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: 4-106327500-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106327500&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 106327500,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000672341.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "NM_001142416.2",
"protein_id": "NP_001135888.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": "ENST00000672341.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000672341.1",
"protein_id": "ENSP00000500620.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": "NM_001142416.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.-109delA",
"hgvs_p": null,
"transcript": "ENST00000394701.6",
"protein_id": "ENSP00000378191.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": -4,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "NM_001142415.2",
"protein_id": "NP_001135887.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "NM_004757.4",
"protein_id": "NP_004748.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000358008.7",
"protein_id": "ENSP00000350699.3",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000671868.1",
"protein_id": "ENSP00000499850.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000671960.1",
"protein_id": "ENSP00000500025.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000672285.1",
"protein_id": "ENSP00000500668.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000672328.1",
"protein_id": "ENSP00000500159.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 4323,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000672337.1",
"protein_id": "ENSP00000499921.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000672911.1",
"protein_id": "ENSP00000500170.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000673018.1",
"protein_id": "ENSP00000500732.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000673123.1",
"protein_id": "ENSP00000500794.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
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"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000684504.1",
"protein_id": "ENSP00000507352.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 263,
"cds_start": 162,
"cds_end": null,
"cds_length": 792,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000442366.6",
"protein_id": "ENSP00000405248.2",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 256,
"cds_start": 162,
"cds_end": null,
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"cdna_start": 234,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "ENST00000510207.5",
"protein_id": "ENSP00000423681.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 149,
"cds_start": 162,
"cds_end": null,
"cds_length": 450,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "XM_017008835.3",
"protein_id": "XP_016864324.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
"cds_end": null,
"cds_length": 939,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs",
"transcript": "XM_047416410.1",
"protein_id": "XP_047272366.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 312,
"cds_start": 162,
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"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.162delA",
"hgvs_p": null,
"transcript": "ENST00000672003.1",
"protein_id": "ENSP00000500187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.1223delA",
"hgvs_p": null,
"transcript": "ENST00000673381.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.587delA",
"hgvs_p": null,
"transcript": "ENST00000683179.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"dbsnp": "rs750731609",
"frequency_reference_population": 0.000045875426,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000438101,
"gnomad_genomes_af": 0.0000656978,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.03999999910593033,
"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": 8.916,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": "ENST00000672341.1",
"gene_symbol": "AIMP1",
"hgnc_id": 10648,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.162delA",
"hgvs_p": "p.Lys54fs"
}
],
"clinvar_disease": "AIMP1-related disorder,Hypomyelinating leukodystrophy 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Hypomyelinating leukodystrophy 3|not provided|AIMP1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}