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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: 19-17276445-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17276445&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17276445,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000598188.6",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "NM_014173.4",
"protein_id": "NP_054892.2",
"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,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "ENST00000598188.6",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "ENST00000598188.6",
"protein_id": "ENSP00000471605.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "NM_014173.4",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "ENST00000359435.8",
"protein_id": "ENSP00000352408.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1472,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "ENST00000602066.5",
"protein_id": "ENSP00000471246.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269307",
"gene_hgnc_id": null,
"hgvs_c": "n.*184-50G>A",
"hgvs_p": null,
"transcript": "ENST00000596542.1",
"protein_id": "ENSP00000469159.2",
"transcript_support_level": 2,
"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": 1207,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "n.18G>A",
"hgvs_p": null,
"transcript": "ENST00000598382.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 424,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "NM_001033549.3",
"protein_id": "NP_001028721.1",
"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,
"cdna_end": null,
"cdna_length": 1415,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "NM_001288756.2",
"protein_id": "NP_001275685.1",
"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,
"cdna_end": null,
"cdna_length": 1366,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "ENST00000601043.5",
"protein_id": "ENSP00000470920.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1366,
"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": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.345-50G>A",
"hgvs_p": null,
"transcript": "NM_001288757.2",
"protein_id": "NP_001275686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1190,
"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": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.345-50G>A",
"hgvs_p": null,
"transcript": "ENST00000447614.6",
"protein_id": "ENSP00000407826.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 930,
"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": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.345-50G>A",
"hgvs_p": null,
"transcript": "ENST00000595632.5",
"protein_id": "ENSP00000468834.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.657-50G>A",
"hgvs_p": null,
"transcript": "ENST00000601938.5",
"protein_id": "ENSP00000472585.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 782,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.594-50G>A",
"hgvs_p": null,
"transcript": "ENST00000596335.5",
"protein_id": "ENSP00000471721.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 655,
"cdna_start": null,
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"cdna_length": 725,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.570-50G>A",
"hgvs_p": null,
"transcript": "ENST00000599474.5",
"protein_id": "ENSP00000472632.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 731,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "c.229+2465G>A",
"hgvs_p": null,
"transcript": "ENST00000598567.1",
"protein_id": "ENSP00000470088.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USHBP1",
"gene_hgnc_id": 24058,
"hgvs_c": "c.-200-1881C>T",
"hgvs_p": null,
"transcript": "ENST00000598309.1",
"protein_id": "ENSP00000471680.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 98,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "n.529-50G>A",
"hgvs_p": null,
"transcript": "ENST00000448635.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "n.*184-50G>A",
"hgvs_p": null,
"transcript": "ENST00000594247.5",
"protein_id": "ENSP00000469527.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1004,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"hgvs_c": "n.443-50G>A",
"hgvs_p": null,
"transcript": "ENST00000595393.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BABAM1",
"gene_hgnc_id": 25008,
"dbsnp": "rs61634114",
"frequency_reference_population": 0.17164895,
"hom_count_reference_population": 24334,
"allele_count_reference_population": 267886,
"gnomad_exomes_af": 0.172968,
"gnomad_genomes_af": 0.159432,
"gnomad_exomes_ac": 243646,
"gnomad_genomes_ac": 24240,
"gnomad_exomes_homalt": 22221,
"gnomad_genomes_homalt": 2113,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.653,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598188.6",
"gene_symbol": "BABAM1",
"hgnc_id": 25008,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.570-50G>A",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000596542.1",
"gene_symbol": "ENSG00000269307",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*184-50G>A",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598309.1",
"gene_symbol": "USHBP1",
"hgnc_id": 24058,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-200-1881C>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
}