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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: 18-57551315-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57551315&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57551315,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_001012515.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1136delA",
"hgvs_p": "p.Lys379fs",
"transcript": "NM_000140.5",
"protein_id": "NP_000131.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 423,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262093.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000140.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1136delA",
"hgvs_p": "p.Lys379fs",
"transcript": "ENST00000262093.11",
"protein_id": "ENSP00000262093.6",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 423,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000140.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262093.11"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.401delA",
"hgvs_p": "p.Lys134fs",
"transcript": "ENST00000591977.5",
"protein_id": "ENSP00000465363.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 142,
"cds_start": 401,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591977.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1154delA",
"hgvs_p": "p.Lys385fs",
"transcript": "NM_001012515.4",
"protein_id": "NP_001012533.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 429,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012515.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1154delA",
"hgvs_p": "p.Lys385fs",
"transcript": "ENST00000652755.1",
"protein_id": "ENSP00000498358.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 429,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652755.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1055delA",
"hgvs_p": "p.Lys352fs",
"transcript": "ENST00000932840.1",
"protein_id": "ENSP00000602899.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 396,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932840.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1037delA",
"hgvs_p": "p.Lys346fs",
"transcript": "NM_001371094.1",
"protein_id": "NP_001358023.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 390,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371094.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1016delA",
"hgvs_p": "p.Lys339fs",
"transcript": "ENST00000878112.1",
"protein_id": "ENSP00000548171.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 383,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878112.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.971delA",
"hgvs_p": "p.Lys324fs",
"transcript": "ENST00000878111.1",
"protein_id": "ENSP00000548170.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 368,
"cds_start": 971,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878111.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.920delA",
"hgvs_p": "p.Lys307fs",
"transcript": "NM_001371095.1",
"protein_id": "NP_001358024.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 351,
"cds_start": 920,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371095.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.920delA",
"hgvs_p": "p.Lys307fs",
"transcript": "ENST00000382873.8",
"protein_id": "ENSP00000372326.4",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 351,
"cds_start": 920,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382873.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.902delA",
"hgvs_p": "p.Lys301fs",
"transcript": "ENST00000972075.1",
"protein_id": "ENSP00000642134.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 345,
"cds_start": 902,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972075.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.872delA",
"hgvs_p": "p.Lys291fs",
"transcript": "ENST00000972076.1",
"protein_id": "ENSP00000642135.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 335,
"cds_start": 872,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972076.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1055delA",
"hgvs_p": "p.Lys352fs",
"transcript": "XM_011525881.2",
"protein_id": "XP_011524183.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 396,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525881.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1078-470delA",
"hgvs_p": null,
"transcript": "NM_001374778.1",
"protein_id": "NP_001361707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374778.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.1078-470delA",
"hgvs_p": null,
"transcript": "ENST00000878110.1",
"protein_id": "ENSP00000548169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.*863delA",
"hgvs_p": null,
"transcript": "ENST00000585494.5",
"protein_id": "ENSP00000465243.1",
"transcript_support_level": 2,
"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": "ENST00000585494.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.1242delA",
"hgvs_p": null,
"transcript": "ENST00000651787.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000651787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.*863delA",
"hgvs_p": null,
"transcript": "ENST00000585494.5",
"protein_id": "ENSP00000465243.1",
"transcript_support_level": 2,
"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": "ENST00000585494.5"
}
],
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"dbsnp": "rs764466739",
"frequency_reference_population": 0.0000013752189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137522,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.3799999952316284,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.72,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.38,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001012515.4",
"gene_symbol": "FECH",
"hgnc_id": 3647,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1154delA",
"hgvs_p": "p.Lys385fs"
}
],
"clinvar_disease": " 1, erythropoietic,FECH-related disorder,Protoporphyria,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Protoporphyria, erythropoietic, 1|not provided|FECH-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}