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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: 8-124488661-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124488661&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124488661,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001317889.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.827A>G",
"hgvs_p": "p.Glu276Gly",
"transcript": "NM_032026.4",
"protein_id": "NP_114415.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 297,
"cds_start": 827,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276692.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032026.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.827A>G",
"hgvs_p": "p.Glu276Gly",
"transcript": "ENST00000276692.11",
"protein_id": "ENSP00000276692.6",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 297,
"cds_start": 827,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276692.11"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Glu229Gly",
"transcript": "ENST00000519548.5",
"protein_id": "ENSP00000428336.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 250,
"cds_start": 686,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000523214.5",
"protein_id": "ENSP00000428609.1",
"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": "ENST00000523214.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000523214.5",
"protein_id": "ENSP00000428609.1",
"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": "ENST00000523214.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Glu312Gly",
"transcript": "NM_001317889.1",
"protein_id": "NP_001304818.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 333,
"cds_start": 935,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317889.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Glu311Gly",
"transcript": "ENST00000933709.1",
"protein_id": "ENSP00000603768.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 332,
"cds_start": 932,
"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": "ENST00000933709.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Glu312Gly",
"transcript": "ENST00000522810.5",
"protein_id": "ENSP00000430274.1",
"transcript_support_level": 3,
"aa_start": 312,
"aa_end": null,
"aa_length": 321,
"cds_start": 935,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522810.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Glu292Gly",
"transcript": "ENST00000933710.1",
"protein_id": "ENSP00000603769.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 875,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933710.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Glu290Gly",
"transcript": "ENST00000866114.1",
"protein_id": "ENSP00000536173.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 311,
"cds_start": 869,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866114.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Glu274Gly",
"transcript": "ENST00000933707.1",
"protein_id": "ENSP00000603766.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 295,
"cds_start": 821,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933707.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Glu251Gly",
"transcript": "ENST00000933711.1",
"protein_id": "ENSP00000603770.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 272,
"cds_start": 752,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933711.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Glu229Gly",
"transcript": "NM_001146160.1",
"protein_id": "NP_001139632.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 250,
"cds_start": 686,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146160.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Glu229Gly",
"transcript": "ENST00000933713.1",
"protein_id": "ENSP00000603772.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 250,
"cds_start": 686,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933713.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Glu228Gly",
"transcript": "ENST00000866113.1",
"protein_id": "ENSP00000536172.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 249,
"cds_start": 683,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866113.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Glu228Gly",
"transcript": "ENST00000933712.1",
"protein_id": "ENSP00000603771.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 249,
"cds_start": 683,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933712.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Glu227Gly",
"transcript": "ENST00000933708.1",
"protein_id": "ENSP00000603767.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 248,
"cds_start": 680,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933708.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Glu222Gly",
"transcript": "NM_001317890.1",
"protein_id": "NP_001304819.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 243,
"cds_start": 665,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317890.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Glu222Gly",
"transcript": "ENST00000630259.1",
"protein_id": "ENSP00000487380.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 243,
"cds_start": 665,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630259.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Glu213Gly",
"transcript": "ENST00000933717.1",
"protein_id": "ENSP00000603776.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 234,
"cds_start": 638,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933717.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Glu208Gly",
"transcript": "ENST00000933716.1",
"protein_id": "ENSP00000603775.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 229,
"cds_start": 623,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933716.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Glu131Gly",
"transcript": "NM_001317891.1",
"protein_id": "NP_001304820.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 152,
"cds_start": 392,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.935A>G",
"hgvs_p": "p.Glu312Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000518639.1",
"gene_symbol": "ENSG00000253106",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.152T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007218.4",
"gene_symbol": "RNF139",
"hgnc_id": 17023,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*1017T>C",
"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
}