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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: 6-54059899-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=54059899&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 54059899,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001281746.2",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "ENST00000514921.5",
"protein_id": "ENSP00000425142.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5743,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "NM_001281746.2",
"protein_id": "NP_001268675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5691,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "NM_138569.3",
"protein_id": "NP_612636.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "ENST00000274897.9",
"protein_id": "ENSP00000274897.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "ENST00000370877.6",
"protein_id": "ENSP00000359914.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1234,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "ENST00000509997.5",
"protein_id": "ENSP00000427584.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1032,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.151-64574T>C",
"hgvs_p": null,
"transcript": "ENST00000505762.1",
"protein_id": "ENSP00000423191.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP-AS1",
"gene_hgnc_id": 40963,
"hgvs_c": "n.202-929A>G",
"hgvs_p": null,
"transcript": "ENST00000589041.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP-AS1",
"gene_hgnc_id": 40963,
"hgvs_c": "n.75-929A>G",
"hgvs_p": null,
"transcript": "ENST00000631364.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 288,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_005249476.6",
"protein_id": "XP_005249533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 984,
"cds_start": -4,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3172,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_047419509.1",
"protein_id": "XP_047275465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3333,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_005249478.6",
"protein_id": "XP_005249535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
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"cdna_length": 3016,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_005249480.6",
"protein_id": "XP_005249537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
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"cdna_length": 1600,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_024446579.2",
"protein_id": "XP_024302347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_024446580.2",
"protein_id": "XP_024302348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1617,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_024446581.2",
"protein_id": "XP_024302349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
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"cds_length": 1221,
"cdna_start": null,
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"cdna_length": 1605,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null,
"transcript": "XM_024446582.2",
"protein_id": "XP_024302350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"dbsnp": "rs9296736",
"frequency_reference_population": 0.512118,
"hom_count_reference_population": 23869,
"allele_count_reference_population": 77887,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.512118,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 77887,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 23869,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.13,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001281746.2",
"gene_symbol": "MLIP",
"hgnc_id": 21355,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.63+40808T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000589041.3",
"gene_symbol": "MLIP-AS1",
"hgnc_id": 40963,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.202-929A>G",
"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
}