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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: 4-105399136-CG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105399136&ref=CG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPA2",
"hgnc_id": 28883,
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_176869.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong,PP3",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "L",
"aa_end": null,
"aa_length": 334,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1005,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_176869.3",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341695.10",
"protein_coding": true,
"protein_id": "NP_789845.1",
"strand": false,
"transcript": "NM_176869.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 334,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1005,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341695.10",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_176869.3",
"protein_coding": true,
"protein_id": "ENSP00000343885.5",
"strand": false,
"transcript": "ENST00000341695.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 305,
"aa_ref": "P",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 611,
"cds_end": null,
"cds_length": 918,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348706.9",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.596_597delCGinsTA",
"hgvs_p": "p.Pro199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313061.8",
"strand": false,
"transcript": "ENST00000348706.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 232,
"aa_ref": "P",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 378,
"cds_end": null,
"cds_length": 699,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432483.6",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.377_378delCGinsTA",
"hgvs_p": "p.Pro126Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389957.2",
"strand": false,
"transcript": "ENST00000432483.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 168,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": 186,
"cds_end": null,
"cds_length": 507,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354147.7",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.185_186delCGinsTA",
"hgvs_p": "p.Pro62Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340352.3",
"strand": false,
"transcript": "ENST00000354147.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000509031.5",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "n.*442_*443delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423467.1",
"strand": false,
"transcript": "ENST00000509031.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000509031.5",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "n.*442_*443delCGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423467.1",
"strand": false,
"transcript": "ENST00000509031.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1134,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899805.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569864.1",
"strand": false,
"transcript": "ENST00000899805.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1095,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899797.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569856.1",
"strand": false,
"transcript": "ENST00000899797.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1047,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899803.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.596_597delCGinsTA",
"hgvs_p": "p.Pro199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569862.1",
"strand": false,
"transcript": "ENST00000899803.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1017,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899798.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.695_696delCGinsTA",
"hgvs_p": "p.Pro232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569857.1",
"strand": false,
"transcript": "ENST00000899798.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 319,
"aa_ref": "P",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1162,
"cdna_start": 678,
"cds_end": null,
"cds_length": 960,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899799.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.638_639delCGinsTA",
"hgvs_p": "p.Pro213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569858.1",
"strand": false,
"transcript": "ENST00000899799.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 313,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 630,
"cds_end": null,
"cds_length": 942,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899802.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.620_621delCGinsTA",
"hgvs_p": "p.Pro207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569861.1",
"strand": false,
"transcript": "ENST00000899802.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 305,
"aa_ref": "P",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 617,
"cds_end": null,
"cds_length": 918,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006903.4",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.596_597delCGinsTA",
"hgvs_p": "p.Pro199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_008834.3",
"strand": false,
"transcript": "NM_006903.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 594,
"cds_end": null,
"cds_length": 906,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899804.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.584_585delCGinsTA",
"hgvs_p": "p.Pro195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569863.1",
"strand": false,
"transcript": "ENST00000899804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "P",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 576,
"cds_end": null,
"cds_length": 885,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899801.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.563_564delCGinsTA",
"hgvs_p": "p.Pro188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569860.1",
"strand": false,
"transcript": "ENST00000899801.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 606,
"cds_end": null,
"cds_length": 864,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919900.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.542_543delCGinsTA",
"hgvs_p": "p.Pro181Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589959.1",
"strand": false,
"transcript": "ENST00000919900.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 276,
"aa_ref": "P",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 537,
"cds_end": null,
"cds_length": 831,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899796.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.509_510delCGinsTA",
"hgvs_p": "p.Pro170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569855.1",
"strand": false,
"transcript": "ENST00000899796.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 265,
"aa_ref": "P",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": 504,
"cds_end": null,
"cds_length": 798,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899800.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.476_477delCGinsTA",
"hgvs_p": "p.Pro159Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569859.1",
"strand": false,
"transcript": "ENST00000899800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": 435,
"cds_end": null,
"cds_length": 744,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960435.1",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
"hgvs_c": "c.422_423delCGinsTA",
"hgvs_p": "p.Pro141Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630494.1",
"strand": false,
"transcript": "ENST00000960435.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 232,
"aa_ref": "P",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 398,
"cds_end": null,
"cds_length": 699,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_176866.2",
"gene_hgnc_id": 28883,
"gene_symbol": "PPA2",
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