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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: 8-94646263-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94646263&ref=C&alt=A&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": "ESRP1",
"hgnc_id": 25966,
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_017697.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.195,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "8",
"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": 0.10011807084083557,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 681,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2046,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_017697.4",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433389.8",
"protein_coding": true,
"protein_id": "NP_060167.2",
"strand": true,
"transcript": "NM_017697.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 681,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2046,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000433389.8",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017697.4",
"protein_coding": true,
"protein_id": "ENSP00000405738.2",
"strand": true,
"transcript": "ENST00000433389.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 677,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2034,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358397.9",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351168.5",
"strand": true,
"transcript": "ENST00000358397.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 659,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1980,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000423620.6",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407349.2",
"strand": true,
"transcript": "ENST00000423620.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 604,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1815,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000454170.7",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402766.3",
"strand": true,
"transcript": "ENST00000454170.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 501,
"aa_ref": "D",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 67,
"cds_end": null,
"cds_length": 1506,
"cds_start": 66,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000519505.5",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.66C>A",
"hgvs_p": "p.Asp22Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430118.1",
"strand": true,
"transcript": "ENST00000519505.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 680,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 657,
"cds_end": null,
"cds_length": 2043,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853635.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523694.1",
"strand": true,
"transcript": "ENST00000853635.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 680,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 803,
"cds_end": null,
"cds_length": 2043,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918824.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588883.1",
"strand": true,
"transcript": "ENST00000918824.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 677,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2034,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001034915.3",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001030087.2",
"strand": true,
"transcript": "NM_001034915.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 674,
"aa_ref": "D",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2025,
"cds_start": 462,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853637.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.462C>A",
"hgvs_p": "p.Asp154Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523696.1",
"strand": true,
"transcript": "ENST00000853637.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2016,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853636.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523695.1",
"strand": true,
"transcript": "ENST00000853636.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 659,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1980,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001122826.2",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116298.1",
"strand": true,
"transcript": "NM_001122826.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 644,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1935,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853638.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523697.1",
"strand": true,
"transcript": "ENST00000853638.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 638,
"aa_ref": "D",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1917,
"cds_start": 342,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918826.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.342C>A",
"hgvs_p": "p.Asp114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588885.1",
"strand": true,
"transcript": "ENST00000918826.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 608,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1827,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001122825.2",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116297.1",
"strand": true,
"transcript": "NM_001122825.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 608,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1827,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646773.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494213.1",
"strand": true,
"transcript": "ENST00000646773.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 604,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1815,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001122827.2",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116299.1",
"strand": true,
"transcript": "NM_001122827.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 522,
"aa_ref": "D",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 48,
"cds_end": null,
"cds_length": 1569,
"cds_start": 48,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000517610.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.48C>A",
"hgvs_p": "p.Asp16Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429125.1",
"strand": true,
"transcript": "ENST00000517610.1",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 435,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1308,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918825.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588884.1",
"strand": true,
"transcript": "ENST00000918825.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 663,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1992,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005250991.4",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251048.1",
"strand": true,
"transcript": "XM_005250991.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 636,
"aa_ref": "D",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1911,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047421916.1",
"gene_hgnc_id": 25966,
"gene_symbol": "ESRP1",
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Asp157Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}