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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: 7-86891765-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=86891765&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 86891765,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001142749.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Lys997Glu",
"transcript": "NM_001142749.3",
"protein_id": "NP_001136221.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 6796,
"mane_select": "ENST00000450689.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142749.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Lys997Glu",
"transcript": "ENST00000450689.7",
"protein_id": "ENSP00000413445.2",
"transcript_support_level": 5,
"aa_start": 997,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 6796,
"mane_select": "NM_001142749.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450689.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.3064A>G",
"hgvs_p": "p.Lys1022Glu",
"transcript": "ENST00000971399.1",
"protein_id": "ENSP00000641458.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971399.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2824A>G",
"hgvs_p": "p.Lys942Glu",
"transcript": "ENST00000860453.1",
"protein_id": "ENSP00000530512.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 974,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860453.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Lys957Glu",
"transcript": "ENST00000423294.5",
"protein_id": "ENSP00000406961.1",
"transcript_support_level": 5,
"aa_start": 957,
"aa_end": null,
"aa_length": 969,
"cds_start": 2869,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423294.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2776A>G",
"hgvs_p": "p.Lys926Glu",
"transcript": "ENST00000444627.5",
"protein_id": "ENSP00000397377.1",
"transcript_support_level": 5,
"aa_start": 926,
"aa_end": null,
"aa_length": 958,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444627.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "NM_001291990.1",
"protein_id": "NP_001278919.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 915,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291990.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Lys830Glu",
"transcript": "NM_152748.4",
"protein_id": "NP_689961.3",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 862,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2695,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152748.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Lys830Glu",
"transcript": "ENST00000416314.5",
"protein_id": "ENSP00000402390.1",
"transcript_support_level": 2,
"aa_start": 830,
"aa_end": null,
"aa_length": 862,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416314.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Lys757Glu",
"transcript": "NM_001291991.2",
"protein_id": "NP_001278920.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 789,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291991.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Lys997Glu",
"transcript": "XM_047420041.1",
"protein_id": "XP_047275997.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 11695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420041.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2824A>G",
"hgvs_p": "p.Lys942Glu",
"transcript": "XM_011515918.3",
"protein_id": "XP_011514220.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 974,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515918.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "XM_006715894.4",
"protein_id": "XP_006715957.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 915,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 6557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715894.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "XM_011515921.2",
"protein_id": "XP_011514223.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 915,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515921.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "XM_047420042.1",
"protein_id": "XP_047275998.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 915,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 6482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420042.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Lys496Glu",
"transcript": "XM_024446686.2",
"protein_id": "XP_024302454.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 528,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 6585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446686.2"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2864+1157A>G",
"hgvs_p": null,
"transcript": "XM_017011843.2",
"protein_id": "XP_016867332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 965,
"cds_start": null,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011843.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.*2261A>G",
"hgvs_p": null,
"transcript": "ENST00000394714.6",
"protein_id": "ENSP00000378203.2",
"transcript_support_level": 5,
"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": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394714.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.139A>G",
"hgvs_p": null,
"transcript": "ENST00000480216.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 709,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.*2261A>G",
"hgvs_p": null,
"transcript": "ENST00000394714.6",
"protein_id": "ENSP00000378203.2",
"transcript_support_level": 5,
"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": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394714.6"
}
],
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"dbsnp": "rs1788167763",
"frequency_reference_population": 0.000015069237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000150692,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7514146566390991,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.427,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.597,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142749.3",
"gene_symbol": "ELAPOR2",
"hgnc_id": 21945,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Lys997Glu"
}
],
"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
}