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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: 5-38489243-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=38489243&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 38489243,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002310.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "NM_001127671.2",
"protein_id": "NP_001121143.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": "ENST00000453190.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127671.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000453190.7",
"protein_id": "ENSP00000398368.2",
"transcript_support_level": 2,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": "NM_001127671.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453190.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000263409.8",
"protein_id": "ENSP00000263409.4",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 10089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263409.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "NM_001364297.2",
"protein_id": "NP_001351226.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 10573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364297.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "NM_002310.6",
"protein_id": "NP_002301.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 10385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002310.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000872131.1",
"protein_id": "ENSP00000542190.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2611,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872131.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000952493.1",
"protein_id": "ENSP00000622552.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952493.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "NM_001364298.2",
"protein_id": "NP_001351227.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 10540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364298.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000872130.1",
"protein_id": "ENSP00000542189.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872130.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2092C>G",
"hgvs_p": "p.Pro698Ala",
"transcript": "ENST00000952492.1",
"protein_id": "ENSP00000622551.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2092,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952492.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "ENST00000929709.1",
"protein_id": "ENSP00000599768.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 10182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929709.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2077C>G",
"hgvs_p": "p.Pro693Ala",
"transcript": "ENST00000952491.1",
"protein_id": "ENSP00000622550.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2077,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2485,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952491.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2224C>G",
"hgvs_p": "p.Pro742Ala",
"transcript": "XM_047417172.1",
"protein_id": "XP_047273128.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2224,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 10622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417172.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "XM_011514042.4",
"protein_id": "XP_011512344.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 10614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514042.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala",
"transcript": "XM_017009463.2",
"protein_id": "XP_016864952.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 10717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009463.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "n.*348C>G",
"hgvs_p": null,
"transcript": "ENST00000506003.5",
"protein_id": "ENSP00000426919.1",
"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": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506003.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "n.3C>G",
"hgvs_p": null,
"transcript": "ENST00000508477.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000508477.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"hgvs_c": "n.*348C>G",
"hgvs_p": null,
"transcript": "ENST00000506003.5",
"protein_id": "ENSP00000426919.1",
"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": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506003.5"
}
],
"gene_symbol": "LIFR",
"gene_hgnc_id": 6597,
"dbsnp": "rs863225047",
"frequency_reference_population": 0.0000012408949,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85129e-7,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.957660436630249,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.793,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.898,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.811,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002310.6",
"gene_symbol": "LIFR",
"hgnc_id": 6597,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Pro724Ala"
}
],
"clinvar_disease": "Stuve-Wiedemann syndrome",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Stuve-Wiedemann syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}