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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: 4-83002716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83002716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83002716,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000340417.8",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "NM_194282.4",
"protein_id": "NP_919258.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": "ENST00000340417.8",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "ENST00000340417.8",
"protein_id": "ENSP00000341947.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": "NM_194282.4",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "ENST00000506560.5",
"protein_id": "ENSP00000423475.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "ENST00000442461.6",
"protein_id": "ENSP00000398265.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4254,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+8031G>A",
"hgvs_p": null,
"transcript": "ENST00000446851.6",
"protein_id": "ENSP00000407139.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4083,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "n.-33+7768G>A",
"hgvs_p": null,
"transcript": "ENST00000508171.5",
"protein_id": "ENSP00000427413.1",
"transcript_support_level": 1,
"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": 2684,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "n.-33+7768G>A",
"hgvs_p": null,
"transcript": "ENST00000510877.5",
"protein_id": "ENSP00000421651.1",
"transcript_support_level": 1,
"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": 4507,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305726",
"gene_hgnc_id": null,
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"transcript": "ENST00000812627.1",
"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": 341,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+10076G>A",
"hgvs_p": null,
"transcript": "NM_001437261.1",
"protein_id": "NP_001424190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5931,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+10076G>A",
"hgvs_p": null,
"transcript": "ENST00000505397.1",
"protein_id": "ENSP00000425844.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2742,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "NM_001288996.2",
"protein_id": "NP_001275925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5854,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+10076G>A",
"hgvs_p": null,
"transcript": "NM_001115007.3",
"protein_id": "NP_001108479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5268,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null,
"transcript": "NM_001115008.3",
"protein_id": "NP_001108480.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 528,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5458,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+8031G>A",
"hgvs_p": null,
"transcript": "NM_001288997.1",
"protein_id": "NP_001275926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
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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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+10076G>A",
"hgvs_p": null,
"transcript": "ENST00000510557.5",
"protein_id": "ENSP00000421045.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "n.120+10076G>A",
"hgvs_p": null,
"transcript": "ENST00000509748.1",
"protein_id": null,
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "n.340+7768G>A",
"hgvs_p": null,
"transcript": "NR_110253.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "n.340+7768G>A",
"hgvs_p": null,
"transcript": "NR_110254.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5454,
"mane_select": null,
"mane_plus": null,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+8031G>A",
"hgvs_p": null,
"transcript": "XM_006714081.4",
"protein_id": "XP_006714144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5869,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"hgvs_c": "c.-33+10076G>A",
"hgvs_p": null,
"transcript": "XM_017007728.2",
"protein_id": "XP_016863217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
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"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIN54",
"gene_hgnc_id": 25397,
"dbsnp": "rs9307811",
"frequency_reference_population": 0.6917904,
"hom_count_reference_population": 37001,
"allele_count_reference_population": 105130,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.69179,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 105130,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 37001,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.409,
"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": "ENST00000340417.8",
"gene_symbol": "LIN54",
"hgnc_id": 25397,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-33+7768G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000812627.1",
"gene_symbol": "ENSG00000305726",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249C>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
}