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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: 5-142903655-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142903655&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 142903655,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001135608.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "NM_001135608.3",
"protein_id": "NP_001129080.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 759,
"cds_start": 818,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "ENST00000645722.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "ENST00000645722.2",
"protein_id": "ENSP00000495131.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 759,
"cds_start": 818,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "NM_001135608.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "ENST00000274498.9",
"protein_id": "ENSP00000274498.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 814,
"cds_start": 818,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "NM_015071.6",
"protein_id": "NP_055886.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 814,
"cds_start": 818,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "NM_001349547.2",
"protein_id": "NP_001336476.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 686,
"cds_start": 710,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 8729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "ENST00000642734.1",
"protein_id": "ENSP00000495827.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 686,
"cds_start": 710,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Tyr197Cys",
"transcript": "ENST00000475287.2",
"protein_id": "ENSP00000494415.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 338,
"cds_start": 590,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_047416970.1",
"protein_id": "XP_047272926.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 816,
"cds_start": 818,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "XM_047416974.1",
"protein_id": "XP_047272930.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 795,
"cds_start": 755,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "XM_047416975.1",
"protein_id": "XP_047272931.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 793,
"cds_start": 755,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "XM_047416966.1",
"protein_id": "XP_047272922.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 780,
"cds_start": 710,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "XM_047416967.1",
"protein_id": "XP_047272923.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 779,
"cds_start": 710,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 813,
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"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Tyr236Cys",
"transcript": "XM_047416977.1",
"protein_id": "XP_047272933.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 779,
"cds_start": 707,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3845,
"cdna_end": null,
"cdna_length": 6025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "XM_005268398.6",
"protein_id": "XP_005268455.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "XM_047416969.1",
"protein_id": "XP_047272925.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 758,
"cds_start": 710,
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"cdna_start": 813,
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"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "XM_047416980.1",
"protein_id": "XP_047272936.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
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"cdna_start": 1037,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "XM_047416982.1",
"protein_id": "XP_047272938.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 738,
"cds_start": 755,
"cds_end": null,
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"cdna_start": 1035,
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"cdna_length": 9062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Tyr193Cys",
"transcript": "XM_047416983.1",
"protein_id": "XP_047272939.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 736,
"cds_start": 578,
"cds_end": null,
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"cdna_start": 1784,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Tyr193Cys",
"transcript": "XM_047416984.1",
"protein_id": "XP_047272940.1",
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"aa_start": 193,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Tyr193Cys",
"transcript": "XM_047416985.1",
"protein_id": "XP_047272941.1",
"transcript_support_level": null,
"aa_start": 193,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Tyr193Cys",
"transcript": "XM_047416990.1",
"protein_id": "XP_047272946.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 736,
"cds_start": 578,
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"cdna_start": 739,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Tyr237Cys",
"transcript": "XM_047416971.1",
"protein_id": "XP_047272927.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 735,
"cds_start": 710,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.438,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135608.3",
"gene_symbol": "ARHGAP26",
"hgnc_id": 17073,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}