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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: 22-19971843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19971843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19971843,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000263207.8",
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "NM_001670.3",
"protein_id": "NP_001661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": "ENST00000263207.8",
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "ENST00000263207.8",
"protein_id": "ENSP00000263207.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": "NM_001670.3",
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2763+43C>T",
"hgvs_p": null,
"transcript": "NM_001438684.1",
"protein_id": "NP_001425613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4510,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2763+43C>T",
"hgvs_p": null,
"transcript": "ENST00000406259.1",
"protein_id": "ENSP00000385444.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2871,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2748+43C>T",
"hgvs_p": null,
"transcript": "NM_001438685.1",
"protein_id": "NP_001425614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4385,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "NM_001438687.1",
"protein_id": "NP_001425616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2763+43C>T",
"hgvs_p": null,
"transcript": "NM_001438690.1",
"protein_id": "NP_001425619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3918,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2748+43C>T",
"hgvs_p": null,
"transcript": "NM_001438693.1",
"protein_id": "NP_001425622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3903,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2592+43C>T",
"hgvs_p": null,
"transcript": "ENST00000401994.5",
"protein_id": "ENSP00000384341.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2700,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2574+43C>T",
"hgvs_p": null,
"transcript": "NM_001410839.1",
"protein_id": "NP_001397768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4007,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2574+43C>T",
"hgvs_p": null,
"transcript": "NM_001438683.1",
"protein_id": "NP_001425612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4117,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2574+43C>T",
"hgvs_p": null,
"transcript": "ENST00000406522.5",
"protein_id": "ENSP00000384732.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
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"cds_length": 2682,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2574+43C>T",
"hgvs_p": null,
"transcript": "NM_001438694.1",
"protein_id": "NP_001425623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": -4,
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"cds_length": 2601,
"cdna_start": null,
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"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "n.1703+43C>T",
"hgvs_p": null,
"transcript": "ENST00000495096.5",
"protein_id": null,
"transcript_support_level": 2,
"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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "XM_006724243.4",
"protein_id": "XP_006724306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2763+43C>T",
"hgvs_p": null,
"transcript": "XM_005261242.4",
"protein_id": "XP_005261299.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2748+43C>T",
"hgvs_p": null,
"transcript": "XM_011530179.4",
"protein_id": "XP_011528481.1",
"transcript_support_level": null,
"aa_start": null,
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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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "XM_011530180.2",
"protein_id": "XP_011528482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
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"cds_length": 2889,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null,
"transcript": "XM_047441367.1",
"protein_id": "XP_047297323.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2763+43C>T",
"hgvs_p": null,
"transcript": "XM_047441369.1",
"protein_id": "XP_047297325.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2535+43C>T",
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"transcript": "XM_006724246.5",
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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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.2592+43C>T",
"hgvs_p": null,
"transcript": "XM_047441372.1",
"protein_id": "XP_047297328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"hgvs_c": "c.1347+43C>T",
"hgvs_p": null,
"transcript": "XM_011530182.4",
"protein_id": "XP_011528484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
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"cds_length": 1581,
"cdna_start": null,
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"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARVCF",
"gene_hgnc_id": 728,
"dbsnp": "rs165824",
"frequency_reference_population": 0.88066727,
"hom_count_reference_population": 625658,
"allele_count_reference_population": 1409869,
"gnomad_exomes_af": 0.88223,
"gnomad_genomes_af": 0.865795,
"gnomad_exomes_ac": 1278088,
"gnomad_genomes_ac": 131781,
"gnomad_exomes_homalt": 568043,
"gnomad_genomes_homalt": 57615,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.574,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263207.8",
"gene_symbol": "ARVCF",
"hgnc_id": 728,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2781+43C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}