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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: 9-122021-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122021&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122021,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018491.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Glu341Gln",
"transcript": "NM_018491.5",
"protein_id": "NP_060961.3",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 395,
"cds_start": 1021,
"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": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Glu341Gln",
"transcript": "ENST00000356521.9",
"protein_id": "ENSP00000348915.4",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 395,
"cds_start": 1021,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Glu341Gln",
"transcript": "ENST00000377400.8",
"protein_id": "ENSP00000366617.5",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 395,
"cds_start": 1021,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000382447.8",
"protein_id": "ENSP00000371885.4",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 376,
"cds_start": 964,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Glu305Gln",
"transcript": "ENST00000314367.14",
"protein_id": "ENSP00000323433.10",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 359,
"cds_start": 913,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*619G>C",
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.2337G>C",
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*742G>C",
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*566G>C",
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*619G>C",
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*742G>C",
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "n.*566G>C",
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "ENST00000966634.1",
"protein_id": "ENSP00000636693.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 393,
"cds_start": 1015,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.976G>C",
"hgvs_p": "p.Glu326Gln",
"transcript": "ENST00000905980.1",
"protein_id": "ENSP00000576039.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 380,
"cds_start": 976,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_001145356.2",
"protein_id": "NP_001138828.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 376,
"cds_start": 964,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Glu321Gln",
"transcript": "NM_001399807.1",
"protein_id": "NP_001386736.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 375,
"cds_start": 961,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Glu321Gln",
"transcript": "ENST00000966633.1",
"protein_id": "ENSP00000636692.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 375,
"cds_start": 961,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Glu318Gln",
"transcript": "ENST00000966635.1",
"protein_id": "ENSP00000636694.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 372,
"cds_start": 952,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Glu312Gln",
"transcript": "NM_001399808.1",
"protein_id": "NP_001386737.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 366,
"cds_start": 934,
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Glu312Gln",
"transcript": "ENST00000905983.1",
"protein_id": "ENSP00000576042.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 366,
"cds_start": 934,
"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": "ENST00000905983.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.919G>C",
"hgvs_p": "p.Glu307Gln",
"transcript": "ENST00000905979.1",
"protein_id": "ENSP00000576038.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 361,
"cds_start": 919,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905979.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1A",
"gene_hgnc_id": 17134,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Glu305Gln",
"transcript": "NM_001145355.2",
"protein_id": "NP_001138827.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 359,
"cds_start": 913,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"dbsnp": "rs1819630627",
"frequency_reference_population": 6.8530323e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85303e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18114030361175537,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1614,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.051,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_018491.5",
"gene_symbol": "ZNG1A",
"hgnc_id": 17134,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Glu341Gln"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000789899.1",
"gene_symbol": "ENSG00000302830",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.982C>G",
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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
}