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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: 18-57554903-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57554903&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57554903,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000262093.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Gln285Arg",
"transcript": "NM_000140.5",
"protein_id": "NP_000131.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 423,
"cds_start": 854,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 7689,
"mane_select": "ENST00000262093.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Gln285Arg",
"transcript": "ENST00000262093.11",
"protein_id": "ENSP00000262093.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 423,
"cds_start": 854,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 7689,
"mane_select": "NM_000140.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Gln291Arg",
"transcript": "NM_001012515.4",
"protein_id": "NP_001012533.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 429,
"cds_start": 872,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Gln291Arg",
"transcript": "ENST00000652755.1",
"protein_id": "ENSP00000498358.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 429,
"cds_start": 872,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Gln285Arg",
"transcript": "NM_001374778.1",
"protein_id": "NP_001361707.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 403,
"cds_start": 854,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 7629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Gln252Arg",
"transcript": "NM_001371094.1",
"protein_id": "NP_001358023.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 390,
"cds_start": 755,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Gln213Arg",
"transcript": "NM_001371095.1",
"protein_id": "NP_001358024.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 351,
"cds_start": 638,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 7799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Gln213Arg",
"transcript": "ENST00000382873.8",
"protein_id": "ENSP00000372326.4",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 351,
"cds_start": 638,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Gln252Arg",
"transcript": "ENST00000592699.6",
"protein_id": "ENSP00000466263.1",
"transcript_support_level": 3,
"aa_start": 252,
"aa_end": null,
"aa_length": 325,
"cds_start": 755,
"cds_end": null,
"cds_length": 978,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"transcript": "ENST00000591977.5",
"protein_id": "ENSP00000465363.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 142,
"cds_start": 119,
"cds_end": null,
"cds_length": 429,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Gln258Arg",
"transcript": "XM_011525881.2",
"protein_id": "XP_011524183.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 396,
"cds_start": 773,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.*581A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.960A>G",
"hgvs_p": null,
"transcript": "ENST00000651787.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.451A>G",
"hgvs_p": null,
"transcript": "ENST00000651812.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.1029A>G",
"hgvs_p": null,
"transcript": "ENST00000682485.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"hgvs_c": "n.*581A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FECH",
"gene_hgnc_id": 3647,
"dbsnp": "rs370708663",
"frequency_reference_population": 0.000022573826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000225738,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7949161529541016,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.768,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.429,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262093.11",
"gene_symbol": "FECH",
"hgnc_id": 3647,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Gln285Arg"
}
],
"clinvar_disease": " 1, erythropoietic,Protoporphyria",
"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",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}