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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: 2-63882550-AA-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63882550&ref=AA&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGP2",
"hgnc_id": 12527,
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006759.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "N",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1527,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006759.4",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337130.10",
"protein_coding": true,
"protein_id": "NP_006750.3",
"strand": true,
"transcript": "NM_006759.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "N",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1527,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337130.10",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006759.4",
"protein_coding": true,
"protein_id": "ENSP00000338703.5",
"strand": true,
"transcript": "ENST00000337130.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1494,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394417.7",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377939.2",
"strand": true,
"transcript": "ENST00000394417.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1494,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467648.6",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420793.2",
"strand": true,
"transcript": "ENST00000467648.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000475550.5",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "n.439_440delAAinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475550.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 539,
"aa_ref": "N",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1620,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866557.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.433_434delAAinsTC",
"hgvs_p": "p.Asn145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536616.1",
"strand": true,
"transcript": "ENST00000866557.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 517,
"aa_ref": "N",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1554,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445915.6",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.367_368delAAinsTC",
"hgvs_p": "p.Asn123Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411803.2",
"strand": true,
"transcript": "ENST00000445915.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "N",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1527,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866555.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536614.1",
"strand": true,
"transcript": "ENST00000866555.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1494,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001521.2",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001521.1",
"strand": true,
"transcript": "NM_001001521.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1494,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377524.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364453.1",
"strand": true,
"transcript": "NM_001377524.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1494,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377525.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364454.1",
"strand": true,
"transcript": "NM_001377525.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "N",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1419,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866559.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.232_233delAAinsTC",
"hgvs_p": "p.Asn78Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536618.1",
"strand": true,
"transcript": "ENST00000866559.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1392,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613823.2",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482043.2",
"strand": true,
"transcript": "ENST00000613823.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1383,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677841.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502898.1",
"strand": true,
"transcript": "ENST00000677841.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 442,
"aa_ref": "N",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1329,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866558.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536617.1",
"strand": true,
"transcript": "ENST00000866558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 427,
"aa_ref": "N",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1284,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866556.1",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.340_341delAAinsTC",
"hgvs_p": "p.Asn114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536615.1",
"strand": true,
"transcript": "ENST00000866556.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": 422,
"cds_end": null,
"cds_length": 638,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491621.5",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420342.1",
"strand": true,
"transcript": "ENST00000491621.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 174,
"aa_ref": "N",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 605,
"cdna_start": 396,
"cds_end": null,
"cds_length": 525,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497883.5",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.316_317delAAinsTC",
"hgvs_p": "p.Asn106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420131.1",
"strand": true,
"transcript": "ENST00000497883.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 355,
"cds_end": null,
"cds_length": 512,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475462.5",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419335.1",
"strand": true,
"transcript": "ENST00000475462.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 149,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 558,
"cdna_start": 413,
"cds_end": null,
"cds_length": 452,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000472047.5",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419238.1",
"strand": true,
"transcript": "ENST00000472047.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 134,
"aa_ref": "N",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": 685,
"cds_end": null,
"cds_length": 406,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488245.6",
"gene_hgnc_id": 12527,
"gene_symbol": "UGP2",
"hgvs_c": "c.307_308delAAinsTC",
"hgvs_p": "p.Asn103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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