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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: 7-86893016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=86893016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 86893016,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142749.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Val924Ile",
"transcript": "NM_001142749.3",
"protein_id": "NP_001136221.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450689.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142749.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Val924Ile",
"transcript": "ENST00000450689.7",
"protein_id": "ENSP00000413445.2",
"transcript_support_level": 5,
"aa_start": 924,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142749.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450689.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Val949Ile",
"transcript": "ENST00000971399.1",
"protein_id": "ENSP00000641458.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971399.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Ile",
"transcript": "ENST00000860453.1",
"protein_id": "ENSP00000530512.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 974,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860453.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2650G>A",
"hgvs_p": "p.Val884Ile",
"transcript": "ENST00000423294.5",
"protein_id": "ENSP00000406961.1",
"transcript_support_level": 5,
"aa_start": 884,
"aa_end": null,
"aa_length": 969,
"cds_start": 2650,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423294.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2557G>A",
"hgvs_p": "p.Val853Ile",
"transcript": "ENST00000444627.5",
"protein_id": "ENSP00000397377.1",
"transcript_support_level": 5,
"aa_start": 853,
"aa_end": null,
"aa_length": 958,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444627.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Ile",
"transcript": "NM_001291990.1",
"protein_id": "NP_001278919.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 915,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291990.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2269G>A",
"hgvs_p": "p.Val757Ile",
"transcript": "NM_152748.4",
"protein_id": "NP_689961.3",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 862,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152748.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2269G>A",
"hgvs_p": "p.Val757Ile",
"transcript": "ENST00000416314.5",
"protein_id": "ENSP00000402390.1",
"transcript_support_level": 2,
"aa_start": 757,
"aa_end": null,
"aa_length": 862,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416314.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "NM_001291991.2",
"protein_id": "NP_001278920.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 789,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291991.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.2770G>A",
"hgvs_p": "p.Val924Ile",
"transcript": "XM_047420041.1",
"protein_id": "XP_047275997.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420041.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Ile",
"transcript": "XM_011515918.3",
"protein_id": "XP_011514220.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 974,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515918.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.2770G>A",
"hgvs_p": "p.Val924Ile",
"transcript": "XM_017011843.2",
"protein_id": "XP_016867332.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 965,
"cds_start": 2770,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011843.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Ile",
"transcript": "XM_006715894.4",
"protein_id": "XP_006715957.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 915,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715894.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Ile",
"transcript": "XM_011515921.2",
"protein_id": "XP_011514223.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 915,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515921.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Ile",
"transcript": "XM_047420042.1",
"protein_id": "XP_047275998.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 915,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420042.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Val423Ile",
"transcript": "XM_024446686.2",
"protein_id": "XP_024302454.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 528,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446686.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.*2042G>A",
"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": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.*2042G>A",
"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": null,
"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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"hgvs_c": "n.-81G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480216.1"
}
],
"gene_symbol": "ELAPOR2",
"gene_hgnc_id": 21945,
"dbsnp": "rs141415743",
"frequency_reference_population": 0.000006933178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000487961,
"gnomad_genomes_af": 0.0000263099,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03028157353401184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.058,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001142749.3",
"gene_symbol": "ELAPOR2",
"hgnc_id": 21945,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Val924Ile"
}
],
"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
}