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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: 12-55685127-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55685127&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"hgvs_c": "c.3477C>T",
"hgvs_p": "p.His1159His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001410977.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.023000000044703484,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "H",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3345,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_002206.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3345C>T",
"hgvs_p": "p.His1115His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257879.11",
"protein_coding": true,
"protein_id": "NP_002197.2",
"strand": false,
"transcript": "NM_002206.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "H",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3345,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000257879.11",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3345C>T",
"hgvs_p": "p.His1115His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002206.3",
"protein_coding": true,
"protein_id": "ENSP00000257879.7",
"strand": false,
"transcript": "ENST00000257879.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "H",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3579,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3357,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000553804.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3357C>T",
"hgvs_p": "p.His1119His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452120.1",
"strand": false,
"transcript": "ENST00000553804.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "H",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 3699,
"cds_end": null,
"cds_length": 3546,
"cds_start": 3477,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001410977.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3477C>T",
"hgvs_p": "p.His1159His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397906.1",
"strand": false,
"transcript": "NM_001410977.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "H",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 3506,
"cds_end": null,
"cds_length": 3546,
"cds_start": 3477,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000555728.5",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3477C>T",
"hgvs_p": "p.His1159His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452387.1",
"strand": false,
"transcript": "ENST00000555728.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "H",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 3679,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3459,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888141.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3459C>T",
"hgvs_p": "p.His1153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558199.1",
"strand": false,
"transcript": "ENST00000888141.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "H",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3444,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888137.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3444C>T",
"hgvs_p": "p.His1148His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558196.1",
"strand": false,
"transcript": "ENST00000888137.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "H",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3378,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888151.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3378C>T",
"hgvs_p": "p.His1126His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558210.1",
"strand": false,
"transcript": "ENST00000888151.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "H",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3579,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3357,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001144996.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3357C>T",
"hgvs_p": "p.His1119His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138468.1",
"strand": false,
"transcript": "NM_001144996.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "H",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3546,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888150.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3354C>T",
"hgvs_p": "p.His1118His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558209.1",
"strand": false,
"transcript": "ENST00000888150.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "H",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 3411,
"cds_start": 3342,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945417.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3342C>T",
"hgvs_p": "p.His1114His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615476.1",
"strand": false,
"transcript": "ENST00000945417.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "H",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3561,
"cds_end": null,
"cds_length": 3408,
"cds_start": 3339,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001414029.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3339C>T",
"hgvs_p": "p.His1113His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400958.1",
"strand": false,
"transcript": "NM_001414029.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "H",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3408,
"cds_start": 3339,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888129.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3339C>T",
"hgvs_p": "p.His1113His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558189.1",
"strand": false,
"transcript": "ENST00000888129.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "H",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888135.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3333C>T",
"hgvs_p": "p.His1111His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558193.1",
"strand": false,
"transcript": "ENST00000888135.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3327,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001374465.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3327C>T",
"hgvs_p": "p.His1109His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361394.1",
"strand": false,
"transcript": "NM_001374465.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "H",
"aa_start": 1109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 3529,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3327,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000347027.10",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3327C>T",
"hgvs_p": "p.His1109His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343009.6",
"strand": false,
"transcript": "ENST00000347027.10",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "H",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3324,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888145.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3324C>T",
"hgvs_p": "p.His1108His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558204.1",
"strand": false,
"transcript": "ENST00000888145.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3321,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945420.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3321C>T",
"hgvs_p": "p.His1107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615479.1",
"strand": false,
"transcript": "ENST00000945420.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3539,
"cds_end": null,
"cds_length": 3387,
"cds_start": 3318,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000945415.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3318C>T",
"hgvs_p": "p.His1106His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615474.1",
"strand": false,
"transcript": "ENST00000945415.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "H",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3315,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000912204.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.3315C>T",
"hgvs_p": "p.His1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582263.1",
"strand": false,
"transcript": "ENST00000912204.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "H",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 3481,
"cds_end": null,
"cds_length": 3381,
"cds_start": 3312,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000888152.1",
"gene_hgnc_id": 6143,
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