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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: 11-3024421-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3024421&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3024421,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000380525.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null,
"transcript": "NM_001014437.3",
"protein_id": "NP_001014437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": "ENST00000380525.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000380525.9",
"protein_id": "ENSP00000369897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": "NM_001014437.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.904+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000397111.9",
"protein_id": "ENSP00000380300.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.904+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000278224.13",
"protein_id": "ENSP00000278224.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null,
"transcript": "NM_001194997.2",
"protein_id": "NP_001181926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.904+2255A>T",
"hgvs_p": null,
"transcript": "NM_001751.6",
"protein_id": "NP_001742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.943+2255A>T",
"hgvs_p": null,
"transcript": "NM_001378136.1",
"protein_id": "NP_001365065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.943+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000529772.5",
"protein_id": "ENSP00000432619.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.874+2255A>T",
"hgvs_p": null,
"transcript": "NM_001378137.1",
"protein_id": "NP_001365066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.904+2255A>T",
"hgvs_p": null,
"transcript": "NM_139273.4",
"protein_id": "NP_644802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
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"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.874+2255A>T",
"hgvs_p": null,
"transcript": "NM_001378138.1",
"protein_id": "NP_001365067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.874+2255A>T",
"hgvs_p": null,
"transcript": "NM_001378139.1",
"protein_id": "NP_001365068.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.874+2255A>T",
"hgvs_p": null,
"transcript": "NM_001440304.1",
"protein_id": "NP_001427233.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.628+2255A>T",
"hgvs_p": null,
"transcript": "NM_001378140.1",
"protein_id": "NP_001365069.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "n.467+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000465240.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "n.3162+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000526890.5",
"protein_id": null,
"transcript_support_level": 2,
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "n.*813+2255A>T",
"hgvs_p": null,
"transcript": "ENST00000531387.5",
"protein_id": "ENSP00000431368.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "n.1256+2255A>T",
"hgvs_p": null,
"transcript": "NR_036542.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 10,
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"gene_symbol": "CARS1",
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"hgvs_c": "n.1256+2255A>T",
"hgvs_p": null,
"transcript": "NR_165428.1",
"protein_id": null,
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "CARS1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "CARS1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null,
"transcript": "XM_047427672.1",
"protein_id": "XP_047283628.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null,
"transcript": "XM_047427674.1",
"protein_id": "XP_047283630.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 551,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"dbsnp": "rs438384",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.294,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380525.9",
"gene_symbol": "CARS1",
"hgnc_id": 1493,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1153+2255A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}