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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: 12-55688947-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55688947&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"hgvs_c": "c.2987G>A",
"hgvs_p": "p.Arg996Gln",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001410977.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.0673,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10522130131721497,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_002206.3",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000257879.11",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "R",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3089,
"cds_end": null,
"cds_length": 3426,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000553804.6",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2867G>A",
"hgvs_p": "p.Arg956Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 3209,
"cds_end": null,
"cds_length": 3546,
"cds_start": 2987,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001410977.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2987G>A",
"hgvs_p": "p.Arg996Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 3546,
"cds_start": 2987,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000555728.5",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2987G>A",
"hgvs_p": "p.Arg996Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 3189,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2969,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000888141.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2969G>A",
"hgvs_p": "p.Arg990Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 3179,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2954,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000888137.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2954G>A",
"hgvs_p": "p.Arg985Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4126,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3447,
"cds_start": 2888,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000888151.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "R",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3089,
"cds_end": null,
"cds_length": 3426,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001144996.2",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2867G>A",
"hgvs_p": "p.Arg956Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2867,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000888150.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2867G>A",
"hgvs_p": "p.Arg956Gln",
"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
},
{
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"aa_length": 1136,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945417.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615476.1",
"strand": false,
"transcript": "ENST00000945417.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2849,
"consequences": [
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],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "NM_001414029.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400958.1",
"strand": false,
"transcript": "NM_001414029.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 22,
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"feature": "ENST00000888129.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558189.1",
"strand": false,
"transcript": "ENST00000888129.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2843,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000888135.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Arg948Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558193.1",
"strand": false,
"transcript": "ENST00000888135.1",
"transcript_support_level": null
},
{
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"cdna_start": 3059,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2837,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001374465.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2837G>A",
"hgvs_p": "p.Arg946Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361394.1",
"strand": false,
"transcript": "NM_001374465.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3039,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2837,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000347027.10",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2837G>A",
"hgvs_p": "p.Arg946Gln",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000888145.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2834G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558204.1",
"strand": false,
"transcript": "ENST00000888145.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000945420.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615479.1",
"strand": false,
"transcript": "ENST00000945420.1",
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},
{
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"aa_ref": "R",
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"consequences": [
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],
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"feature": "ENST00000945415.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615474.1",
"strand": false,
"transcript": "ENST00000945415.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 3384,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000912204.1",
"gene_hgnc_id": 6143,
"gene_symbol": "ITGA7",
"hgvs_c": "c.2825G>A",
"hgvs_p": "p.Arg942Gln",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2822,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
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