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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: 1-205337461-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205337461&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205337461,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018203.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "NM_018203.3",
"protein_id": "NP_060673.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367155.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018203.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000367155.8",
"protein_id": "ENSP00000356123.3",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018203.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367155.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000941910.1",
"protein_id": "ENSP00000611969.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 358,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941910.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "NM_001271863.2",
"protein_id": "NP_001258792.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271863.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "NM_001271864.2",
"protein_id": "NP_001258793.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271864.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "NM_001271865.2",
"protein_id": "NP_001258794.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271865.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000367156.7",
"protein_id": "ENSP00000356124.3",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367156.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000539253.5",
"protein_id": "ENSP00000442229.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539253.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000900187.1",
"protein_id": "ENSP00000570246.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900187.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000900188.1",
"protein_id": "ENSP00000570247.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900188.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941896.1",
"protein_id": "ENSP00000611955.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941896.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941897.1",
"protein_id": "ENSP00000611956.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941897.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941898.1",
"protein_id": "ENSP00000611957.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941898.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941899.1",
"protein_id": "ENSP00000611958.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941899.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941900.1",
"protein_id": "ENSP00000611959.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941900.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941901.1",
"protein_id": "ENSP00000611960.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941901.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941902.1",
"protein_id": "ENSP00000611961.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941902.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941903.1",
"protein_id": "ENSP00000611962.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941903.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941904.1",
"protein_id": "ENSP00000611963.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941904.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941905.1",
"protein_id": "ENSP00000611964.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941905.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941906.1",
"protein_id": "ENSP00000611965.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941906.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC8A",
"gene_hgnc_id": 25573,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Met",
"transcript": "ENST00000941907.1",
"protein_id": "ENSP00000611966.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 350,
"cds_start": 991,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.39,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.275,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_018203.3",
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"effects": [
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],
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],
"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
}