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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: 7-143381591-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=143381591&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 143381591,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003461.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "NM_003461.5",
"protein_id": "NP_003452.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 572,
"cds_start": 20,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322764.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003461.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000322764.10",
"protein_id": "ENSP00000324422.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 572,
"cds_start": 20,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003461.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322764.10"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000943399.1",
"protein_id": "ENSP00000613458.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 602,
"cds_start": 20,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943399.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000869086.1",
"protein_id": "ENSP00000539145.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 582,
"cds_start": 20,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869086.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000869087.1",
"protein_id": "ENSP00000539146.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 582,
"cds_start": 20,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869087.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "NM_001010972.2",
"protein_id": "NP_001010972.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 572,
"cds_start": 20,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010972.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000943398.1",
"protein_id": "ENSP00000613457.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 548,
"cds_start": 20,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943398.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "NM_001362783.2",
"protein_id": "NP_001349712.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 541,
"cds_start": 20,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362783.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ser6Phe",
"transcript": "ENST00000354434.8",
"protein_id": "ENSP00000346417.4",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 540,
"cds_start": 17,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354434.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000869088.1",
"protein_id": "ENSP00000539147.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 434,
"cds_start": 20,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869088.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000869089.1",
"protein_id": "ENSP00000539148.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 20,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869089.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000869090.1",
"protein_id": "ENSP00000539149.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 20,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869090.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000943397.1",
"protein_id": "ENSP00000613456.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 20,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943397.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "ENST00000457235.5",
"protein_id": "ENSP00000400537.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 163,
"cds_start": 20,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457235.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "XM_047420817.1",
"protein_id": "XP_047276773.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 541,
"cds_start": 20,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420817.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe",
"transcript": "XM_047420818.1",
"protein_id": "XP_047276774.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 344,
"cds_start": 20,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420818.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM131B",
"gene_hgnc_id": 22202,
"hgvs_c": "c.-57+328G>A",
"hgvs_p": null,
"transcript": "NM_001371250.1",
"protein_id": "NP_001358179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371250.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "c.115+182C>T",
"hgvs_p": null,
"transcript": "ENST00000449630.5",
"protein_id": "ENSP00000413467.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449630.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"hgvs_c": "n.85C>T",
"hgvs_p": null,
"transcript": "ENST00000468083.1",
"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": "retained_intron",
"feature": "ENST00000468083.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM131B-AS2",
"gene_hgnc_id": 56141,
"hgvs_c": "n.421+328G>A",
"hgvs_p": null,
"transcript": "ENST00000841327.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000841327.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM131B-AS2",
"gene_hgnc_id": 56141,
"hgvs_c": "n.322+328G>A",
"hgvs_p": null,
"transcript": "ENST00000841328.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000841328.1"
}
],
"gene_symbol": "ZYX",
"gene_hgnc_id": 13200,
"dbsnp": "rs377574869",
"frequency_reference_population": 0.0000031038473,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205664,
"gnomad_genomes_af": 0.0000131396,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23387610912322998,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.4597,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.879,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003461.5",
"gene_symbol": "ZYX",
"hgnc_id": 13200,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Ser7Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001371250.1",
"gene_symbol": "FAM131B",
"hgnc_id": 22202,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-57+328G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000841327.1",
"gene_symbol": "FAM131B-AS2",
"hgnc_id": 56141,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.421+328G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}