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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: 8-22408352-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22408352&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22408352,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000381237.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001128431.4",
"protein_id": "NP_001121903.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "ENST00000381237.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_015359.6",
"protein_id": "NP_056174.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": "ENST00000359741.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000359741.10",
"protein_id": "ENSP00000352779.5",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": "NM_015359.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000381237.6",
"protein_id": "ENSP00000370635.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "NM_001128431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000240095.10",
"protein_id": "ENSP00000240095.6",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 481,
"cds_start": 313,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "NM_001351657.2",
"protein_id": "NP_001338586.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 4960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "NM_001351658.2",
"protein_id": "NP_001338587.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "NM_001351659.2",
"protein_id": "NP_001338588.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001135153.3",
"protein_id": "NP_001128625.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001351655.2",
"protein_id": "NP_001338584.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001351656.2",
"protein_id": "NP_001338585.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001351660.2",
"protein_id": "NP_001338589.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000289952.9",
"protein_id": "ENSP00000289952.5",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001135154.3",
"protein_id": "NP_001128626.1",
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"aa_start": 105,
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"cds_start": 313,
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"cdna_start": 459,
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"cdna_length": 1717,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000522881.2",
"protein_id": "ENSP00000429328.2",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 154,
"cds_start": 313,
"cds_end": null,
"cds_length": 466,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000517552.1",
"protein_id": "ENSP00000430564.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
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"cds_start": 313,
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"cdna_start": 507,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000519960.5",
"protein_id": "ENSP00000430629.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 121,
"cds_start": 313,
"cds_end": null,
"cds_length": 368,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "XM_047421653.1",
"protein_id": "XP_047277609.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
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"cdna_start": 638,
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"cdna_length": 4842,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "XM_006716324.4",
"protein_id": "XP_006716387.1",
"transcript_support_level": null,
"aa_start": 105,
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"aa_length": 492,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "XM_047421654.1",
"protein_id": "XP_047277610.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
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"cdna_start": 791,
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"cdna_length": 4995,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "XM_047421655.1",
"protein_id": "XP_047277611.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"dbsnp": "rs879253764",
"frequency_reference_population": 0.000004104332,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410433,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04755845665931702,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.453,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000381237.6",
"gene_symbol": "SLC39A14",
"hgnc_id": 20858,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}