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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: 20-4884071-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=4884071&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 4884071,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_005116.6",
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "NM_005116.6",
"protein_id": "NP_005107.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": "ENST00000338244.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005116.6"
},
{
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000338244.6",
"protein_id": "ENSP00000344322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": "NM_005116.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338244.6"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000379333.5",
"protein_id": "ENSP00000368637.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379333.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "n.1009-248A>G",
"hgvs_p": null,
"transcript": "ENST00000468355.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468355.5"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877970.1",
"protein_id": "ENSP00000548029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877970.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877967.1",
"protein_id": "ENSP00000548026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877967.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877974.1",
"protein_id": "ENSP00000548033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877974.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877972.1",
"protein_id": "ENSP00000548031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877972.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "NM_203327.2",
"protein_id": "NP_976072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203327.2"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877968.1",
"protein_id": "ENSP00000548027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877968.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877969.1",
"protein_id": "ENSP00000548028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877969.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
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"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877971.1",
"protein_id": "ENSP00000548030.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 650,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877971.1"
},
{
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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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
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"transcript": "ENST00000922621.1",
"protein_id": "ENSP00000592680.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": 9,
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"gene_symbol": "SLC23A2",
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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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000949266.1",
"protein_id": "ENSP00000619325.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000949266.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 9,
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"gene_symbol": "SLC23A2",
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"hgvs_c": "c.643-248A>G",
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"transcript": "ENST00000949267.1",
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"feature": "ENST00000949267.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.643-248A>G",
"hgvs_p": null,
"transcript": "ENST00000949268.1",
"protein_id": "ENSP00000619327.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000949268.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.544-248A>G",
"hgvs_p": null,
"transcript": "ENST00000877973.1",
"protein_id": "ENSP00000548032.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "ENST00000877973.1"
},
{
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"strand": false,
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],
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"intron_rank": 8,
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"gene_symbol": "SLC23A2",
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},
{
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"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "SLC23A2",
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"hgvs_c": "c.483-9375A>G",
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"transcript": "ENST00000922620.1",
"protein_id": "ENSP00000592679.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.93-9375A>G",
"hgvs_p": null,
"transcript": "ENST00000423430.1",
"protein_id": "ENSP00000396364.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 911,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000423430.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "n.243-248A>G",
"hgvs_p": null,
"transcript": "ENST00000496331.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496331.1"
}
],
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"dbsnp": "rs6116569",
"frequency_reference_population": 0.6299616,
"hom_count_reference_population": 32794,
"allele_count_reference_population": 95797,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.629962,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 95797,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 32794,
"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": -0.207,
"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": "NM_005116.6",
"gene_symbol": "SLC23A2",
"hgnc_id": 10973,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.643-248A>G",
"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
}