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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: 18-35243155-CCA-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=35243155&ref=CCA&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF397",
"hgnc_id": 18818,
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001135178.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"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": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5259,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135178.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000330501.12",
"protein_coding": true,
"protein_id": "NP_001128650.1",
"strand": true,
"transcript": "NM_001135178.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5259,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000330501.12",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135178.3",
"protein_coding": true,
"protein_id": "ENSP00000331577.6",
"strand": true,
"transcript": "ENST00000330501.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 553,
"cds_end": null,
"cds_length": 828,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261333.10",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261333.5",
"strand": true,
"transcript": "ENST00000261333.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000589420.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "n.63_65delCCAinsTCT",
"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": "ENST00000589420.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892487.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562546.1",
"strand": true,
"transcript": "ENST00000892487.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892488.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562547.1",
"strand": true,
"transcript": "ENST00000892488.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892489.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562548.1",
"strand": true,
"transcript": "ENST00000892489.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892491.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562550.1",
"strand": true,
"transcript": "ENST00000892491.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912773.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582832.1",
"strand": true,
"transcript": "ENST00000912773.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957143.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627202.1",
"strand": true,
"transcript": "ENST00000957143.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1602,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892490.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562549.1",
"strand": true,
"transcript": "ENST00000892490.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 574,
"cds_end": null,
"cds_length": 828,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032347.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115723.1",
"strand": true,
"transcript": "NM_032347.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 245,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 553,
"cds_end": null,
"cds_length": 738,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355632.8",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347850.4",
"strand": true,
"transcript": "ENST00000355632.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 207,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 624,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585800.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466760.1",
"strand": true,
"transcript": "ENST00000585800.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 207,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 571,
"cds_end": null,
"cds_length": 624,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591206.5",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466317.1",
"strand": true,
"transcript": "ENST00000591206.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "P",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 602,
"cdna_start": 473,
"cds_end": null,
"cds_length": 601,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588119.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.472_474delCCAinsTCT",
"hgvs_p": "p.Pro158Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464808.1",
"strand": true,
"transcript": "ENST00000588119.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 499,
"cds_end": null,
"cds_length": 567,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592264.1",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468413.1",
"strand": true,
"transcript": "ENST00000592264.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5316,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1662,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722558.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.475_477delCCAinsTCT",
"hgvs_p": "p.Pro159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722621.1",
"strand": true,
"transcript": "XM_006722558.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1662,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526229.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.475_477delCCAinsTCT",
"hgvs_p": "p.Pro159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524531.1",
"strand": true,
"transcript": "XM_011526229.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5278,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1662,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526230.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.475_477delCCAinsTCT",
"hgvs_p": "p.Pro159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524532.1",
"strand": true,
"transcript": "XM_011526230.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5221,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1605,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526231.3",
"gene_hgnc_id": 18818,
"gene_symbol": "ZNF397",
"hgvs_c": "c.418_420delCCAinsTCT",
"hgvs_p": "p.Pro140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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