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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: 5-75104641-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75104641&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75104641,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001372053.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4918G>T",
"hgvs_p": "p.Gly1640Cys",
"transcript": "NM_001372053.1",
"protein_id": "NP_001358982.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1930,
"cds_start": 4918,
"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": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4918G>T",
"hgvs_p": "p.Gly1640Cys",
"transcript": "ENST00000506364.6",
"protein_id": "ENSP00000427262.2",
"transcript_support_level": 5,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1930,
"cds_start": 4918,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4747G>T",
"hgvs_p": "p.Gly1583Cys",
"transcript": "NM_001164443.1",
"protein_id": "NP_001157915.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1873,
"cds_start": 4747,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4747G>T",
"hgvs_p": "p.Gly1583Cys",
"transcript": "ENST00000274361.3",
"protein_id": "ENSP00000274361.3",
"transcript_support_level": 5,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1873,
"cds_start": 4747,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4921G>T",
"hgvs_p": "p.Gly1641Cys",
"transcript": "XM_011543298.4",
"protein_id": "XP_011541600.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1931,
"cds_start": 4921,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4921G>T",
"hgvs_p": "p.Gly1641Cys",
"transcript": "XM_011543300.4",
"protein_id": "XP_011541602.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1907,
"cds_start": 4921,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4822G>T",
"hgvs_p": "p.Gly1608Cys",
"transcript": "XM_017009317.1",
"protein_id": "XP_016864806.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1898,
"cds_start": 4822,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4819G>T",
"hgvs_p": "p.Gly1607Cys",
"transcript": "XM_024446010.2",
"protein_id": "XP_024301778.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1897,
"cds_start": 4819,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4921G>T",
"hgvs_p": "p.Gly1641Cys",
"transcript": "XM_017009318.3",
"protein_id": "XP_016864807.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1884,
"cds_start": 4921,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4750G>T",
"hgvs_p": "p.Gly1584Cys",
"transcript": "XM_011543301.4",
"protein_id": "XP_011541603.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1874,
"cds_start": 4750,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4921G>T",
"hgvs_p": "p.Gly1641Cys",
"transcript": "XM_047417078.1",
"protein_id": "XP_047273034.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4921,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4630G>T",
"hgvs_p": "p.Gly1544Cys",
"transcript": "XM_017009319.2",
"protein_id": "XP_016864808.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4630,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4573G>T",
"hgvs_p": "p.Gly1525Cys",
"transcript": "XM_011543302.2",
"protein_id": "XP_011541604.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1815,
"cds_start": 4573,
"cds_end": null,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4573G>T",
"hgvs_p": "p.Gly1525Cys",
"transcript": "XM_017009320.2",
"protein_id": "XP_016864809.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1815,
"cds_start": 4573,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009320.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.4531G>T",
"hgvs_p": "p.Gly1511Cys",
"transcript": "XM_024446011.2",
"protein_id": "XP_024301779.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1801,
"cds_start": 4531,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "c.3619G>T",
"hgvs_p": "p.Gly1207Cys",
"transcript": "XM_017009321.1",
"protein_id": "XP_016864810.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3619,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "n.1708G>T",
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "n.*3964G>T",
"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,
"cds_end": null,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD31",
"gene_hgnc_id": 26853,
"hgvs_c": "n.*3964G>T",
"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,
"cds_end": null,
"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": "rs140882867",
"frequency_reference_population": 0.0000014453561,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000144536,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30473792552948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.1607,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.44,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001372053.1",
"gene_symbol": "ANKRD31",
"hgnc_id": 26853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4918G>T",
"hgvs_p": "p.Gly1640Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}