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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: 7-100403744-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100403744&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ZCWPW1",
"hgnc_id": 23486,
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001386010.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "ENSG00000289690",
"hgnc_id": null,
"hgvs_c": "c.-749-8C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000695707.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "ENSG00000289691",
"hgnc_id": null,
"hgvs_c": "n.423-8C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000695704.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.032999999821186066,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386010.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684423.1",
"protein_coding": true,
"protein_id": "NP_001372939.1",
"strand": false,
"transcript": "NM_001386010.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000684423.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386010.1",
"protein_coding": true,
"protein_id": "ENSP00000507762.1",
"strand": false,
"transcript": "ENST00000684423.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 648,
"aa_ref": "E",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1360,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000398027.6",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1360G>T",
"hgvs_p": "p.Glu454*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381109.2",
"strand": false,
"transcript": "ENST00000398027.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 477,
"aa_ref": "E",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1000,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000490721.5",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1000G>T",
"hgvs_p": "p.Glu334*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419187.1",
"strand": false,
"transcript": "ENST00000490721.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 220,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695707.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289690",
"hgvs_c": "c.-749-8C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512107.1",
"strand": true,
"transcript": "ENST00000695707.1",
"transcript_support_level": null
},
{
"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": 1754,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000490089.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "n.1240G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490089.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857286.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527345.1",
"strand": false,
"transcript": "ENST00000857286.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857298.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527357.1",
"strand": false,
"transcript": "ENST00000857298.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 648,
"aa_ref": "E",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1360,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_017984.6",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1360G>T",
"hgvs_p": "p.Glu454*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060454.3",
"strand": false,
"transcript": "NM_017984.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 643,
"aa_ref": "E",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1363,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386016.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1363G>T",
"hgvs_p": "p.Glu455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372945.1",
"strand": false,
"transcript": "NM_001386016.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 640,
"aa_ref": "E",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1336,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000958742.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1336G>T",
"hgvs_p": "p.Glu446*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628801.1",
"strand": false,
"transcript": "ENST00000958742.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 623,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1285,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857297.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Glu429*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527356.1",
"strand": false,
"transcript": "ENST00000857297.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 622,
"aa_ref": "E",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1282,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857288.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Glu428*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527347.1",
"strand": false,
"transcript": "ENST00000857288.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 622,
"aa_ref": "E",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1282,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857299.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Glu428*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527358.1",
"strand": false,
"transcript": "ENST00000857299.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 599,
"aa_ref": "E",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1366,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857285.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Glu456*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527344.1",
"strand": false,
"transcript": "ENST00000857285.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 597,
"aa_ref": "E",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1360,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857293.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1360G>T",
"hgvs_p": "p.Glu454*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527352.1",
"strand": false,
"transcript": "ENST00000857293.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1366,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386017.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Glu456*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372946.1",
"strand": false,
"transcript": "NM_001386017.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 538,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1030,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000857294.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Glu344*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527353.1",
"strand": false,
"transcript": "ENST00000857294.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "E",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1366,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386013.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Glu456*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372942.1",
"strand": false,
"transcript": "NM_001386013.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "E",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1366,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001386018.1",
"gene_hgnc_id": 23486,
"gene_symbol": "ZCWPW1",
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Glu456*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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