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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: 17-3007190-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3007190&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3007190,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000254695.13",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1360-821G>A",
"hgvs_p": null,
"transcript": "NM_015085.5",
"protein_id": "NP_055900.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": "ENST00000254695.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1360-821G>A",
"hgvs_p": null,
"transcript": "ENST00000254695.13",
"protein_id": "ENSP00000254695.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": "NM_015085.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1315-821G>A",
"hgvs_p": null,
"transcript": "ENST00000366401.8",
"protein_id": "ENSP00000389824.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1483-821G>A",
"hgvs_p": null,
"transcript": "NM_001411048.1",
"protein_id": "NP_001397977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1483-821G>A",
"hgvs_p": null,
"transcript": "ENST00000637138.1",
"protein_id": "ENSP00000490321.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1438-821G>A",
"hgvs_p": null,
"transcript": "NM_001438816.1",
"protein_id": "NP_001425745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1387-821G>A",
"hgvs_p": null,
"transcript": "NM_001411049.1",
"protein_id": "NP_001397978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1387-821G>A",
"hgvs_p": null,
"transcript": "ENST00000697391.1",
"protein_id": "ENSP00000513294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1342-821G>A",
"hgvs_p": null,
"transcript": "NM_001438817.1",
"protein_id": "NP_001425746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1315-821G>A",
"hgvs_p": null,
"transcript": "NM_001100398.2",
"protein_id": "NP_001093868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
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"cds_length": 2148,
"cdna_start": null,
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"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1303-821G>A",
"hgvs_p": null,
"transcript": "NM_001330058.2",
"protein_id": "NP_001316987.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
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"hgvs_c": "c.1303-821G>A",
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"transcript": "ENST00000540393.6",
"protein_id": "ENSP00000439688.2",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1258-821G>A",
"hgvs_p": null,
"transcript": "NM_001438818.1",
"protein_id": "NP_001425747.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1219-821G>A",
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"transcript": "ENST00000697392.1",
"protein_id": "ENSP00000513295.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1174-821G>A",
"hgvs_p": null,
"transcript": "NM_001437988.1",
"protein_id": "NP_001424917.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 668,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": 9,
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"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.622-821G>A",
"hgvs_p": null,
"transcript": "NM_001438819.1",
"protein_id": "NP_001425748.1",
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},
{
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],
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "RAP1GAP2",
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"hgvs_c": "n.527-821G>A",
"hgvs_p": null,
"transcript": "ENST00000574515.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.1333-821G>A",
"hgvs_p": null,
"transcript": "XM_017024371.2",
"protein_id": "XP_016879860.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RAP1GAP2",
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},
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],
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"gene_symbol": "RAP1GAP2",
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"hgvs_c": "c.1303-821G>A",
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"transcript": "XM_047435668.1",
"protein_id": "XP_047291624.1",
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},
{
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],
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"gene_symbol": "RAP1GAP2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.346-821G>A",
"hgvs_p": null,
"transcript": "XM_011523745.3",
"protein_id": "XP_011522047.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 392,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"dbsnp": "rs894664",
"frequency_reference_population": 0.14807096,
"hom_count_reference_population": 1947,
"allele_count_reference_population": 22521,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.148071,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22521,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1947,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.46,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000254695.13",
"gene_symbol": "RAP1GAP2",
"hgnc_id": 29176,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1360-821G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}