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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: 4-99046540-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99046540&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99046540,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000296411.11",
"consequences": [
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.787+1230T>A",
"hgvs_p": null,
"transcript": "NM_015143.3",
"protein_id": "NP_055958.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": "ENST00000296411.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.787+1230T>A",
"hgvs_p": null,
"transcript": "ENST00000296411.11",
"protein_id": "ENSP00000296411.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": "NM_015143.3",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.121+1230T>A",
"hgvs_p": null,
"transcript": "ENST00000514051.1",
"protein_id": "ENSP00000422689.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1058,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.140-2193T>A",
"hgvs_p": null,
"transcript": "ENST00000510133.5",
"protein_id": "ENSP00000423071.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 715,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.748+1230T>A",
"hgvs_p": null,
"transcript": "XM_011531777.4",
"protein_id": "XP_011530079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6035,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.682+1230T>A",
"hgvs_p": null,
"transcript": "XM_011531778.3",
"protein_id": "XP_011530080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2765,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.656-2193T>A",
"hgvs_p": null,
"transcript": "XM_011531779.3",
"protein_id": "XP_011530081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.787+1230T>A",
"hgvs_p": null,
"transcript": "XM_017007914.3",
"protein_id": "XP_016863403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2542,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.637+1230T>A",
"hgvs_p": null,
"transcript": "XM_047449883.1",
"protein_id": "XP_047305839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2960,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.637+1230T>A",
"hgvs_p": null,
"transcript": "XM_047449884.1",
"protein_id": "XP_047305840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2757,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.637+1230T>A",
"hgvs_p": null,
"transcript": "XM_047449885.1",
"protein_id": "XP_047305841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
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"cdna_length": 2920,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.617-2193T>A",
"hgvs_p": null,
"transcript": "XM_024453946.2",
"protein_id": "XP_024309714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
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"cdna_length": 5903,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.551-2193T>A",
"hgvs_p": null,
"transcript": "XM_024453947.2",
"protein_id": "XP_024309715.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
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"cdna_length": 2633,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.508+1230T>A",
"hgvs_p": null,
"transcript": "XM_017007916.3",
"protein_id": "XP_016863405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
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"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.508+1230T>A",
"hgvs_p": null,
"transcript": "XM_017007917.3",
"protein_id": "XP_016863406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.445+1230T>A",
"hgvs_p": null,
"transcript": "XM_024453951.2",
"protein_id": "XP_024309719.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.445+1230T>A",
"hgvs_p": null,
"transcript": "XM_047449886.1",
"protein_id": "XP_047305842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"hgvs_c": "c.445+1230T>A",
"hgvs_p": null,
"transcript": "XM_047449887.1",
"protein_id": "XP_047305843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "METAP1",
"gene_hgnc_id": 15789,
"dbsnp": "rs1230210",
"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": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.928,
"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": "ENST00000296411.11",
"gene_symbol": "METAP1",
"hgnc_id": 15789,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.787+1230T>A",
"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
}