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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: 21-32515045-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32515045&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EVA1C",
"hgnc_id": 13239,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Cys394Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_058187.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"hgvs_c": "n.*393-17250C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000674072.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TCP10L",
"hgnc_id": 11657,
"hgvs_c": "n.1021-16613C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000673907.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 76,
"alphamissense_prediction": null,
"alphamissense_score": 0.0795,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012433022260665894,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_058187.5",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Cys394Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300255.7",
"protein_coding": true,
"protein_id": "NP_478067.2",
"strand": true,
"transcript": "NM_058187.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000300255.7",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Cys394Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058187.5",
"protein_coding": true,
"protein_id": "ENSP00000300255.2",
"strand": true,
"transcript": "ENST00000300255.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000382699.7",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1172G>A",
"hgvs_p": "p.Cys391Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372146.3",
"strand": true,
"transcript": "ENST00000382699.7",
"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": 1745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000437338.5",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "n.*771G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389291.1",
"strand": true,
"transcript": "ENST00000437338.5",
"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": 1745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000437338.5",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "n.*771G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389291.1",
"strand": true,
"transcript": "ENST00000437338.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960933.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Cys394Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630992.1",
"strand": true,
"transcript": "ENST00000960933.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 440,
"aa_ref": "C",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898248.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Cys393Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568307.1",
"strand": true,
"transcript": "ENST00000898248.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001286556.2",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1172G>A",
"hgvs_p": "p.Cys391Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273485.1",
"strand": true,
"transcript": "NM_001286556.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 437,
"aa_ref": "C",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898244.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Cys390Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568303.1",
"strand": true,
"transcript": "ENST00000898244.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 411,
"aa_ref": "C",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898253.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Cys364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568312.1",
"strand": true,
"transcript": "ENST00000898253.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 410,
"aa_ref": "C",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960935.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Cys363Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630994.1",
"strand": true,
"transcript": "ENST00000960935.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 408,
"aa_ref": "C",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1227,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960934.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Cys361Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630993.1",
"strand": true,
"transcript": "ENST00000960934.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000401402.7",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Cys346Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384594.3",
"strand": true,
"transcript": "ENST00000401402.7",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 390,
"aa_ref": "C",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898250.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1028G>A",
"hgvs_p": "p.Cys343Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568309.1",
"strand": true,
"transcript": "ENST00000898250.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 384,
"aa_ref": "C",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898247.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Cys337Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568306.1",
"strand": true,
"transcript": "ENST00000898247.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 383,
"aa_ref": "C",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960936.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Cys336Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630995.1",
"strand": true,
"transcript": "ENST00000960936.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 366,
"aa_ref": "C",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1101,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898249.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Cys319Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568308.1",
"strand": true,
"transcript": "ENST00000898249.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 346,
"aa_ref": "C",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1041,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001320745.2",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307674.1",
"strand": true,
"transcript": "NM_001320745.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 334,
"aa_ref": "C",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1005,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320744.2",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Cys287Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307673.1",
"strand": true,
"transcript": "NM_001320744.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 334,
"aa_ref": "C",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 1005,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898243.1",
"gene_hgnc_id": 13239,
"gene_symbol": "EVA1C",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Cys287Tyr",
"intron_rank": null,
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}