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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: 4-106328186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106328186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 106328186,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000672341.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "NM_001142416.2",
"protein_id": "NP_001135888.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": "ENST00000672341.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000672341.1",
"protein_id": "ENSP00000500620.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": "NM_001142416.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.64C>T",
"hgvs_p": "p.Gln22*",
"transcript": "ENST00000394701.6",
"protein_id": "ENSP00000378191.5",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 222,
"cds_start": 64,
"cds_end": null,
"cds_length": 669,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "NM_001142415.2",
"protein_id": "NP_001135887.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "NM_004757.4",
"protein_id": "NP_004748.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000358008.7",
"protein_id": "ENSP00000350699.3",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000671868.1",
"protein_id": "ENSP00000499850.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000671960.1",
"protein_id": "ENSP00000500025.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000672285.1",
"protein_id": "ENSP00000500668.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000672328.1",
"protein_id": "ENSP00000500159.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 4495,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000672337.1",
"protein_id": "ENSP00000499921.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000672911.1",
"protein_id": "ENSP00000500170.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000673018.1",
"protein_id": "ENSP00000500732.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000673123.1",
"protein_id": "ENSP00000500794.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000684504.1",
"protein_id": "ENSP00000507352.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 263,
"cds_start": 334,
"cds_end": null,
"cds_length": 792,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000510207.5",
"protein_id": "ENSP00000423681.1",
"transcript_support_level": 4,
"aa_start": 112,
"aa_end": null,
"aa_length": 149,
"cds_start": 334,
"cds_end": null,
"cds_length": 450,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "XM_017008835.3",
"protein_id": "XP_016864324.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "XM_047416410.1",
"protein_id": "XP_047272366.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 312,
"cds_start": 334,
"cds_end": null,
"cds_length": 939,
"cdna_start": 620,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.334C>T",
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.1395C>T",
"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,
"cdna_end": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "n.759C>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"hgvs_c": "c.223+622C>T",
"hgvs_p": null,
"transcript": "ENST00000442366.6",
"protein_id": "ENSP00000405248.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIMP1",
"gene_hgnc_id": 10648,
"dbsnp": "rs879253867",
"frequency_reference_population": 0.0000013691409,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136914,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.365,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*"
}
],
"clinvar_disease": "Hypomyelinating leukodystrophy 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hypomyelinating leukodystrophy 3|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}