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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: 3-3137395-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3137395&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 3137395,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182916.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "NM_182916.3",
"protein_id": "NP_886552.3",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251607.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182916.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000251607.11",
"protein_id": "ENSP00000251607.6",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182916.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251607.11"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000280591.10",
"protein_id": "ENSP00000280591.6",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 414,
"cds_start": 284,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280591.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000698413.1",
"protein_id": "ENSP00000513706.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 473,
"cds_start": 401,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698413.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000698414.1",
"protein_id": "ENSP00000513707.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 473,
"cds_start": 401,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698414.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000866264.1",
"protein_id": "ENSP00000536323.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 473,
"cds_start": 401,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866264.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000925748.1",
"protein_id": "ENSP00000595807.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 473,
"cds_start": 401,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925748.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000970528.1",
"protein_id": "ENSP00000640587.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 473,
"cds_start": 401,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970528.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "NM_001367321.1",
"protein_id": "NP_001354250.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "NM_001367321.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "NM_001367322.1",
"protein_id": "NP_001354251.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "NM_001367322.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "NM_001367323.1",
"protein_id": "NP_001354252.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "NM_001367323.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000698406.1",
"protein_id": "ENSP00000513700.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000698406.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000698412.1",
"protein_id": "ENSP00000513705.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000698412.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000866261.1",
"protein_id": "ENSP00000536320.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000866261.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000866262.1",
"protein_id": "ENSP00000536321.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000866262.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000866263.1",
"protein_id": "ENSP00000536322.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000866263.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000925750.1",
"protein_id": "ENSP00000595809.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000925750.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000970529.1",
"protein_id": "ENSP00000640588.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "ENST00000970529.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "NM_001302946.2",
"protein_id": "NP_001289875.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 414,
"cds_start": 284,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302946.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "ENST00000397779.3",
"protein_id": "ENSP00000380881.3",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 139,
"cds_start": 284,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397779.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "XM_047448240.1",
"protein_id": "XP_047304196.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "XM_047448240.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TRNT1",
"gene_hgnc_id": 17341,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ser95Leu",
"transcript": "XM_047448241.1",
"protein_id": "XP_047304197.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 434,
"cds_start": 284,
"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": "XM_047448241.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}