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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: 19-4692342-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4692342&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4692342,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000262960.14",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_139159.5",
"protein_id": "NP_631898.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": "ENST00000262960.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "ENST00000262960.14",
"protein_id": "ENSP00000262960.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": "NM_139159.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9-AS1",
"gene_hgnc_id": 50706,
"hgvs_c": "n.322G>A",
"hgvs_p": null,
"transcript": "ENST00000655857.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384611.1",
"protein_id": "NP_001371540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384612.1",
"protein_id": "NP_001371541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384613.1",
"protein_id": "NP_001371542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384614.1",
"protein_id": "NP_001371543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384615.1",
"protein_id": "NP_001371544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "ENST00000600621.6",
"protein_id": "ENSP00000472549.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "ENST00000601130.6",
"protein_id": "ENSP00000471629.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384617.1",
"protein_id": "NP_001371546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
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"cdna_length": 4267,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384618.1",
"protein_id": "NP_001371547.1",
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"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1484-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384619.1",
"protein_id": "NP_001371548.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384620.1",
"protein_id": "NP_001371549.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384621.1",
"protein_id": "NP_001371550.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1517-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384622.1",
"protein_id": "NP_001371551.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
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"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384623.1",
"protein_id": "NP_001371552.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384624.1",
"protein_id": "NP_001371553.1",
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384625.1",
"protein_id": "NP_001371554.1",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 14,
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"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "NM_001384626.1",
"protein_id": "NP_001371555.1",
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},
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"strand": false,
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],
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"intron_rank": 15,
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"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
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"transcript": "NM_001384627.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "ENST00000593973.2",
"protein_id": "ENSP00000515514.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 863,
"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1430-1385C>T",
"hgvs_p": null,
"transcript": "ENST00000598800.5",
"protein_id": "ENSP00000469603.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"exon_count": 23,
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"gene_symbol": "DPP9",
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"protein_id": "XP_047295609.1",
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"feature": null
}
],
"gene_symbol": "DPP9",
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"dbsnp": "rs10406145",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000013164,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"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": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.195,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262960.14",
"gene_symbol": "DPP9",
"hgnc_id": 18648,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1517-1385C>T",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000655857.1",
"gene_symbol": "DPP9-AS1",
"hgnc_id": 50706,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}