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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: 1-65425307-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=65425307&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 65425307,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_002303.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_002303.6",
"protein_id": "NP_002294.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349533.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000349533.11",
"protein_id": "ENSP00000330393.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002303.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349533.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000371059.7",
"protein_id": "ENSP00000360098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"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": "ENST00000371059.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000371060.7",
"protein_id": "ENSP00000360099.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371060.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_017526.5",
"protein_id": "NP_059996.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 131,
"cds_start": 21,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371065.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017526.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000371065.9",
"protein_id": "ENSP00000360104.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 131,
"cds_start": 21,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017526.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371065.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000613538.1",
"protein_id": "ENSP00000483521.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 140,
"cds_start": 48,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_002303.6",
"protein_id": "NP_002294.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349533.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000349533.11",
"protein_id": "ENSP00000330393.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002303.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349533.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000371059.7",
"protein_id": "ENSP00000360098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"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": "ENST00000371059.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "ENST00000371060.7",
"protein_id": "ENSP00000360099.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371060.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "n.78C>T",
"hgvs_p": null,
"transcript": "ENST00000497874.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497874.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001003680.3",
"protein_id": "NP_001003680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"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": "NM_001003680.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001003679.3",
"protein_id": "NP_001003679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003679.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000484243.1",
"protein_id": "ENSP00000497374.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 143,
"cds_start": 21,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484243.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Leu16Leu",
"transcript": "NM_001198681.2",
"protein_id": "NP_001185610.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 140,
"cds_start": 48,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198681.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000488747.5",
"protein_id": "ENSP00000497385.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 108,
"cds_start": 21,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488747.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000475108.5",
"protein_id": "ENSP00000497944.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 73,
"cds_start": 21,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475108.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROT",
"gene_hgnc_id": 29477,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_001198683.2",
"protein_id": "NP_001185612.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 37,
"cds_start": 21,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198683.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001003680.3",
"protein_id": "NP_001003680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"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": "NM_001003680.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001003679.3",
"protein_id": "NP_001003679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003679.3"
}
],
"gene_symbol": "LEPR",
"gene_hgnc_id": 6554,
"dbsnp": "rs13306523",
"frequency_reference_population": 0.00435378,
"hom_count_reference_population": 206,
"allele_count_reference_population": 7020,
"gnomad_exomes_af": 0.00409898,
"gnomad_genomes_af": 0.00679696,
"gnomad_exomes_ac": 5985,
"gnomad_genomes_ac": 1035,
"gnomad_exomes_homalt": 165,
"gnomad_genomes_homalt": 41,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.785,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002303.6",
"gene_symbol": "LEPR",
"hgnc_id": 6554,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-92C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001198681.2",
"gene_symbol": "LEPROT",
"hgnc_id": 29477,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Leu16Leu"
}
],
"clinvar_disease": "Monogenic Non-Syndromic Obesity,Obesity due to leptin receptor gene deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Obesity due to leptin receptor gene deficiency|Monogenic Non-Syndromic Obesity|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}