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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: 4-57110122-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=57110122&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IGFBP7",
"hgnc_id": 5476,
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001553.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "IGFBP7-AS1",
"hgnc_id": 40296,
"hgvs_c": "n.209+152_209+153delCCinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000499667.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": 282,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 264,
"cds_end": null,
"cds_length": 849,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001553.3",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295666.6",
"protein_coding": true,
"protein_id": "NP_001544.1",
"strand": false,
"transcript": "NM_001553.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 264,
"cds_end": null,
"cds_length": 849,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295666.6",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001553.3",
"protein_coding": true,
"protein_id": "ENSP00000295666.4",
"strand": false,
"transcript": "ENST00000295666.6",
"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": 1389,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000499667.6",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.209+152_209+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000499667.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 264,
"cds_end": null,
"cds_length": 957,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896424.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566483.1",
"strand": false,
"transcript": "ENST00000896424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 307,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 467,
"cds_end": null,
"cds_length": 924,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947223.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617282.1",
"strand": false,
"transcript": "ENST00000947223.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 469,
"cds_end": null,
"cds_length": 882,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896421.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566480.1",
"strand": false,
"transcript": "ENST00000896421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 264,
"cds_end": null,
"cds_length": 879,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896425.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566484.1",
"strand": false,
"transcript": "ENST00000896425.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 264,
"cds_end": null,
"cds_length": 867,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896426.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566485.1",
"strand": false,
"transcript": "ENST00000896426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 280,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 569,
"cds_end": null,
"cds_length": 843,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896420.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566479.1",
"strand": false,
"transcript": "ENST00000896420.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 264,
"cds_end": null,
"cds_length": 840,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001253835.2",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240764.1",
"strand": false,
"transcript": "NM_001253835.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 264,
"cds_end": null,
"cds_length": 840,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514062.2",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486293.1",
"strand": false,
"transcript": "ENST00000514062.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 267,
"cds_end": null,
"cds_length": 771,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896422.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566481.1",
"strand": false,
"transcript": "ENST00000896422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1011,
"cdna_start": 267,
"cds_end": null,
"cds_length": 732,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896423.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566482.1",
"strand": false,
"transcript": "ENST00000896423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 237,
"aa_ref": "G",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 405,
"cds_end": null,
"cds_length": 714,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896419.1",
"gene_hgnc_id": 5476,
"gene_symbol": "IGFBP7",
"hgvs_c": "c.229_230delGGinsTC",
"hgvs_p": "p.Gly77Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566478.1",
"strand": false,
"transcript": "ENST00000896419.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508328.7",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.230+152_230+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000508328.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777009.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.207+152_207+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777009.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777010.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.235+152_235+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777010.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777011.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.147+235_147+236delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777011.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777012.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.204+152_204+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777012.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777013.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.129+152_129+153delCCinsGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 526,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777014.1",
"gene_hgnc_id": 40296,
"gene_symbol": "IGFBP7-AS1",
"hgvs_c": "n.150+152_150+153delCCinsGA",
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