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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: 5-75140912-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75140912&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75140912,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001372053.1",
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3596-1929G>A",
"hgvs_p": null,
"transcript": "NM_001372053.1",
"protein_id": "NP_001358982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1930,
"cds_start": null,
"cds_end": null,
"cds_length": 5793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000506364.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372053.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3596-1929G>A",
"hgvs_p": null,
"transcript": "ENST00000506364.6",
"protein_id": "ENSP00000427262.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1930,
"cds_start": null,
"cds_end": null,
"cds_length": 5793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372053.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506364.6"
},
{
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3425-1929G>A",
"hgvs_p": null,
"transcript": "NM_001164443.1",
"protein_id": "NP_001157915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164443.1"
},
{
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3425-1929G>A",
"hgvs_p": null,
"transcript": "ENST00000274361.3",
"protein_id": "ENSP00000274361.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274361.3"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3599-1929G>A",
"hgvs_p": null,
"transcript": "XM_011543298.4",
"protein_id": "XP_011541600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543298.4"
},
{
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3599-1929G>A",
"hgvs_p": null,
"transcript": "XM_011543300.4",
"protein_id": "XP_011541602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": null,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543300.4"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3500-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009317.1",
"protein_id": "XP_016864806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1898,
"cds_start": null,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009317.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3497-1929G>A",
"hgvs_p": null,
"transcript": "XM_024446010.2",
"protein_id": "XP_024301778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": null,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446010.2"
},
{
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3599-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009318.3",
"protein_id": "XP_016864807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1884,
"cds_start": null,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009318.3"
},
{
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3428-1929G>A",
"hgvs_p": null,
"transcript": "XM_011543301.4",
"protein_id": "XP_011541603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1874,
"cds_start": null,
"cds_end": null,
"cds_length": 5625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543301.4"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3599-1929G>A",
"hgvs_p": null,
"transcript": "XM_047417078.1",
"protein_id": "XP_047273034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": null,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417078.1"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3308-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009319.2",
"protein_id": "XP_016864808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1834,
"cds_start": null,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009319.2"
},
{
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3251-1929G>A",
"hgvs_p": null,
"transcript": "XM_011543302.2",
"protein_id": "XP_011541604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
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"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543302.2"
},
{
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3251-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009320.2",
"protein_id": "XP_016864809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009320.2"
},
{
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3209-1929G>A",
"hgvs_p": null,
"transcript": "XM_024446011.2",
"protein_id": "XP_024301779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1801,
"cds_start": null,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446011.2"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.2297-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009321.1",
"protein_id": "XP_016864810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": null,
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"cds_length": 4494,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009321.1"
},
{
"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": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3599-1929G>A",
"hgvs_p": null,
"transcript": "XM_017009322.3",
"protein_id": "XP_016864811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": null,
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"cds_length": 4179,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009322.3"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "n.386-1929G>A",
"hgvs_p": null,
"transcript": "ENST00000504022.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000504022.1"
},
{
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "n.*2642-1929G>A",
"hgvs_p": null,
"transcript": "ENST00000674120.1",
"protein_id": "ENSP00000501032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674120.1"
}
],
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"dbsnp": "rs1600073",
"frequency_reference_population": 0.45894986,
"hom_count_reference_population": 17771,
"allele_count_reference_population": 69787,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.45895,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 69787,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 17771,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.28,
"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_001372053.1",
"gene_symbol": "ANKRD31",
"hgnc_id": 26853,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3596-1929G>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
}