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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: 9-123239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 123239,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018491.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Cys310Tyr",
"transcript": "NM_018491.5",
"protein_id": "NP_060961.3",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 395,
"cds_start": 929,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356521.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018491.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Cys310Tyr",
"transcript": "ENST00000356521.9",
"protein_id": "ENSP00000348915.4",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 395,
"cds_start": 929,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018491.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356521.9"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Cys310Tyr",
"transcript": "ENST00000377400.8",
"protein_id": "ENSP00000366617.5",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 395,
"cds_start": 929,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377400.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Cys291Tyr",
"transcript": "ENST00000382447.8",
"protein_id": "ENSP00000371885.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 376,
"cds_start": 872,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382447.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Cys274Tyr",
"transcript": "ENST00000314367.14",
"protein_id": "ENSP00000323433.10",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 359,
"cds_start": 821,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314367.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*527G>A",
"hgvs_p": null,
"transcript": "ENST00000465014.6",
"protein_id": "ENSP00000482298.1",
"transcript_support_level": 2,
"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": "ENST00000465014.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.2245G>A",
"hgvs_p": null,
"transcript": "ENST00000495302.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000495302.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*650G>A",
"hgvs_p": null,
"transcript": "ENST00000612045.4",
"protein_id": "ENSP00000477749.1",
"transcript_support_level": 1,
"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": "ENST00000612045.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*474G>A",
"hgvs_p": null,
"transcript": "ENST00000616944.4",
"protein_id": "ENSP00000482821.1",
"transcript_support_level": 2,
"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": "ENST00000616944.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*474G>A",
"hgvs_p": null,
"transcript": "ENST00000619157.4",
"protein_id": "ENSP00000483746.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000619157.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*527G>A",
"hgvs_p": null,
"transcript": "ENST00000465014.6",
"protein_id": "ENSP00000482298.1",
"transcript_support_level": 2,
"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": "ENST00000465014.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*650G>A",
"hgvs_p": null,
"transcript": "ENST00000612045.4",
"protein_id": "ENSP00000477749.1",
"transcript_support_level": 1,
"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": "ENST00000612045.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*474G>A",
"hgvs_p": null,
"transcript": "ENST00000616944.4",
"protein_id": "ENSP00000482821.1",
"transcript_support_level": 2,
"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": "ENST00000616944.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*474G>A",
"hgvs_p": null,
"transcript": "ENST00000619157.4",
"protein_id": "ENSP00000483746.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000619157.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Cys308Tyr",
"transcript": "ENST00000966634.1",
"protein_id": "ENSP00000636693.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 393,
"cds_start": 923,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966634.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Cys295Tyr",
"transcript": "ENST00000905980.1",
"protein_id": "ENSP00000576039.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 380,
"cds_start": 884,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905980.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Cys291Tyr",
"transcript": "NM_001145356.2",
"protein_id": "NP_001138828.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 376,
"cds_start": 872,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145356.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Cys290Tyr",
"transcript": "NM_001399807.1",
"protein_id": "NP_001386736.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 375,
"cds_start": 869,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399807.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Cys290Tyr",
"transcript": "ENST00000966633.1",
"protein_id": "ENSP00000636692.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 375,
"cds_start": 869,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966633.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Cys287Tyr",
"transcript": "ENST00000966635.1",
"protein_id": "ENSP00000636694.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 372,
"cds_start": 860,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966635.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Cys281Tyr",
"transcript": "NM_001399808.1",
"protein_id": "NP_001386737.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 366,
"cds_start": 842,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399808.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Cys281Tyr",
"transcript": "ENST00000905983.1",
"protein_id": "ENSP00000576042.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 366,
"cds_start": 842,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
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],
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"hom_count_reference_population": null,
"allele_count_reference_population": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.535,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018491.5",
"gene_symbol": "ZNG1A",
"hgnc_id": 17134,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Cys310Tyr"
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000789896.1",
"gene_symbol": "ENSG00000302830",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"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
}