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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: 11-61420021-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61420021&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPSF7",
"hgnc_id": 30098,
"hgvs_c": "c.580A>C",
"hgvs_p": "p.Asn194His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024811.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2542,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "11",
"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": 0.2253471314907074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 462,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1389,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142565.3",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439958.8",
"protein_coding": true,
"protein_id": "NP_001136037.1",
"strand": false,
"transcript": "NM_001142565.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 462,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1389,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000439958.8",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142565.3",
"protein_coding": true,
"protein_id": "ENSP00000397203.3",
"strand": false,
"transcript": "ENST00000439958.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "N",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1545,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000340437.8",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.580A>C",
"hgvs_p": "p.Asn194His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345412.4",
"strand": false,
"transcript": "ENST00000340437.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "N",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1545,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_024811.4",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.580A>C",
"hgvs_p": "p.Asn194His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079087.3",
"strand": false,
"transcript": "NM_024811.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001136040.4",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129512.1",
"strand": false,
"transcript": "NM_001136040.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394888.8",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378352.4",
"strand": false,
"transcript": "ENST00000394888.8",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3587,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859445.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529504.1",
"strand": false,
"transcript": "ENST00000859445.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859446.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529505.1",
"strand": false,
"transcript": "ENST00000859446.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859447.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529506.1",
"strand": false,
"transcript": "ENST00000859447.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000859448.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529507.1",
"strand": false,
"transcript": "ENST00000859448.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859449.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529508.1",
"strand": false,
"transcript": "ENST00000859449.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1416,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925921.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595980.1",
"strand": false,
"transcript": "ENST00000925921.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 469,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1410,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940949.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611008.1",
"strand": false,
"transcript": "ENST00000940949.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 462,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1389,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000448745.5",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407394.1",
"strand": false,
"transcript": "ENST00000448745.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 440,
"aa_ref": "N",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1323,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925920.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.385A>C",
"hgvs_p": "p.Asn129His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595979.1",
"strand": false,
"transcript": "ENST00000925920.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 423,
"aa_ref": "N",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 449,
"cds_end": null,
"cds_length": 1272,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925919.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.334A>C",
"hgvs_p": "p.Asn112His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595978.1",
"strand": false,
"transcript": "ENST00000925919.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 373,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1124,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000477890.6",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437860.1",
"strand": false,
"transcript": "ENST00000477890.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 287,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": 540,
"cds_end": null,
"cds_length": 864,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539952.5",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438381.1",
"strand": false,
"transcript": "ENST00000539952.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 218,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 722,
"cdna_start": 515,
"cds_end": null,
"cds_length": 658,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000544585.5",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437531.1",
"strand": false,
"transcript": "ENST00000544585.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 203,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 564,
"cds_end": null,
"cds_length": 614,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000413232.5",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Asn151His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393828.1",
"strand": false,
"transcript": "ENST00000413232.5",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "N",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1545,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047427617.1",
"gene_hgnc_id": 30098,
"gene_symbol": "CPSF7",
"hgvs_c": "c.580A>C",
"hgvs_p": "p.Asn194His",
"intron_rank": null,
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