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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: 17-47658554-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47658554&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47658554,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002265.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "NM_002265.6",
"protein_id": "NP_002256.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 876,
"cds_start": 530,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290158.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002265.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000290158.9",
"protein_id": "ENSP00000290158.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 876,
"cds_start": 530,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002265.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290158.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931903.1",
"protein_id": "ENSP00000601962.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 926,
"cds_start": 530,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931903.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000583648.6",
"protein_id": "ENSP00000464042.2",
"transcript_support_level": 4,
"aa_start": 177,
"aa_end": null,
"aa_length": 876,
"cds_start": 530,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583648.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931899.1",
"protein_id": "ENSP00000601958.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 876,
"cds_start": 530,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931899.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931900.1",
"protein_id": "ENSP00000601959.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 876,
"cds_start": 530,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931900.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000866807.1",
"protein_id": "ENSP00000536866.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 530,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866807.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931905.1",
"protein_id": "ENSP00000601964.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 530,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931905.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000866804.1",
"protein_id": "ENSP00000536863.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 852,
"cds_start": 530,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866804.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931902.1",
"protein_id": "ENSP00000601961.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 846,
"cds_start": 530,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931902.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000946082.1",
"protein_id": "ENSP00000616141.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 830,
"cds_start": 530,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946082.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931901.1",
"protein_id": "ENSP00000601960.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 812,
"cds_start": 530,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931901.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.329T>C",
"hgvs_p": "p.Ile110Thr",
"transcript": "ENST00000866808.1",
"protein_id": "ENSP00000536867.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 809,
"cds_start": 329,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866808.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000866806.1",
"protein_id": "ENSP00000536865.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 775,
"cds_start": 530,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866806.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000931904.1",
"protein_id": "ENSP00000601963.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 755,
"cds_start": 530,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931904.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Ile32Thr",
"transcript": "NM_001276453.2",
"protein_id": "NP_001263382.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 731,
"cds_start": 95,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276453.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Ile32Thr",
"transcript": "ENST00000535458.6",
"protein_id": "ENSP00000438253.2",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 731,
"cds_start": 95,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535458.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Ile32Thr",
"transcript": "ENST00000540627.5",
"protein_id": "ENSP00000438964.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 731,
"cds_start": 95,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540627.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr",
"transcript": "ENST00000866805.1",
"protein_id": "ENSP00000536864.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 700,
"cds_start": 530,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866805.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Ile61Thr",
"transcript": "ENST00000582097.5",
"protein_id": "ENSP00000463066.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 689,
"cds_start": 182,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582097.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Ile32Thr",
"transcript": "ENST00000577875.5",
"protein_id": "ENSP00000464200.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 59,
"cds_start": 95,
"cds_end": null,
"cds_length": 182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577875.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "n.623T>C",
"hgvs_p": null,
"transcript": "ENST00000577918.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000577918.5"
}
],
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.86688232421875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.715,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002265.6",
"gene_symbol": "KPNB1",
"hgnc_id": 6400,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Ile177Thr"
}
],
"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
}